SNP Links for Protein (Select 291084612) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:31142837 (GRCh38)
4:31144459 (GRCh37)
Canonical SPDI:: NC_000004.12:31142836:A:G
Gene:: PCDH7 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.31142837A>G, NC_000004.11:g.31144459A>G, NM_032457.4:c.3732A>G, NM_032457.3:c.3732A>G, NM_001173523.2:c.3756A>G, NM_001173523.1:c.3756A>G

Select item 14856514576.

rs1485651457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:30724288 (GRCh38)
4:30725910 (GRCh37)
Canonical SPDI:: NC_000004.12:30724287:G:A,NC_000004.12:30724287:G:T
Gene:: PCDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.30724288G>A, NC_000004.12:g.30724288G>T, NC_000004.11:g.30725910G>A, NC_000004.11:g.30725910G>T, NM_032457.4:c.2866G>A, NM_032457.4:c.2866G>T, NM_032457.3:c.2866G>A, NM_032457.3:c.2866G>T, NM_002589.4:c.2866G>A, NM_002589.4:c.2866G>T, NM_002589.3:c.2866G>A, NM_002589.3:c.2866G>T, NM_002589.2:c.2866G>A, NM_002589.2:c.2866G>T, NM_032456.4:c.2866G>A, NM_032456.4:c.2866G>T, NM_032456.3:c.2866G>A, NM_032456.3:c.2866G>T, NM_001173523.2:c.2866G>A, NM_001173523.2:c.2866G>T, NM_001173523.1:c.2866G>A, NM_001173523.1:c.2866G>T, NM_032456.2:c.2866G>A, NM_032456.2:c.2866G>T, NR_172626.1:n.3920G>A, NR_172626.1:n.3920G>T, NP_115833.2:p.Ala956Thr, NP_115833.2:p.Ala956Ser, NP_002580.2:p.Ala956Thr, NP_002580.2:p.Ala956Ser, NP_001166994.1:p.Ala956Thr, NP_001166994.1:p.Ala956Ser

Select item 14840448517.

rs1484044851 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:30723014 (GRCh38)
4:30724636 (GRCh37)
Canonical SPDI:: NC_000004.12:30723013:A:G
Gene:: PCDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.30723014A>G, NC_000004.11:g.30724636A>G, NM_032457.4:c.1592A>G, NM_032457.3:c.1592A>G, NM_002589.4:c.1592A>G, NM_002589.3:c.1592A>G, NM_002589.2:c.1592A>G, NM_032456.4:c.1592A>G, NM_032456.3:c.1592A>G, NM_001173523.2:c.1592A>G, NM_001173523.1:c.1592A>G, NM_032456.2:c.1592A>G, NR_172626.1:n.2646A>G, NP_115833.2:p.Asn531Ser, NP_002580.2:p.Asn531Ser, NP_001166994.1:p.Asn531Ser

Select item 14839750388.

rs1483975038 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:30724322 (GRCh38)
4:30725944 (GRCh37)
Canonical SPDI:: NC_000004.12:30724321:T:G
Gene:: PCDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.30724322T>G, NC_000004.11:g.30725944T>G, NM_032457.4:c.2900T>G, NM_032457.3:c.2900T>G, NM_002589.4:c.2900T>G, NM_002589.3:c.2900T>G, NM_002589.2:c.2900T>G, NM_032456.4:c.2900T>G, NM_032456.3:c.2900T>G, NM_001173523.2:c.2900T>G, NM_001173523.1:c.2900T>G, NM_032456.2:c.2900T>G, NR_172626.1:n.3954T>G, NP_115833.2:p.Val967Gly, NP_002580.2:p.Val967Gly, NP_001166994.1:p.Val967Gly

Select item 14829241709.

rs1482924170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:30721739 (GRCh38)
4:30723361 (GRCh37)
Canonical SPDI:: NC_000004.12:30721738:A:T
Gene:: PCDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.30721739A>T, NC_000004.11:g.30723361A>T, NM_032457.4:c.317A>T, NM_032457.3:c.317A>T, NM_002589.4:c.317A>T, NM_002589.3:c.317A>T, NM_002589.2:c.317A>T, NM_032456.4:c.317A>T, NM_032456.3:c.317A>T, NM_001173523.2:c.317A>T, NM_001173523.1:c.317A>T, NM_032456.2:c.317A>T, NR_172626.1:n.1371A>T, NP_115833.2:p.Asn106Ile, NP_002580.2:p.Asn106Ile, NP_001166994.1:p.Asn106Ile

Select item 148270974610.

rs1482709746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:30722659 (GRCh38)
4:30724281 (GRCh37)
Canonical SPDI:: NC_000004.12:30722658:C:T
Gene:: PCDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.30722659C>T, NC_000004.11:g.30724281C>T, NM_032457.4:c.1237C>T, NM_032457.3:c.1237C>T, NM_002589.4:c.1237C>T, NM_002589.3:c.1237C>T, NM_002589.2:c.1237C>T, NM_032456.4:c.1237C>T, NM_032456.3:c.1237C>T, NM_001173523.2:c.1237C>T, NM_001173523.1:c.1237C>T, NM_032456.2:c.1237C>T, NR_172626.1:n.2291C>T, NP_115833.2:p.Pro413Ser, NP_002580.2:p.Pro413Ser, NP_001166994.1:p.Pro413Ser

Select item 148218927111.

rs1482189271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:30721690 (GRCh38)
4:30723312 (GRCh37)
Canonical SPDI:: NC_000004.12:30721689:C:T
Gene:: PCDH7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.30721690C>T, NC_000004.11:g.30723312C>T, NM_032457.4:c.268C>T, NM_032457.3:c.268C>T, NM_002589.4:c.268C>T, NM_002589.3:c.268C>T, NM_002589.2:c.268C>T, NM_032456.4:c.268C>T, NM_032456.3:c.268C>T, NM_001173523.2:c.268C>T, NM_001173523.1:c.268C>T, NM_032456.2:c.268C>T, NR_172626.1:n.1322C>T, NP_115833.2:p.Arg90Cys, NP_002580.2:p.Arg90Cys, NP_001166994.1:p.Arg90Cys

Select item 148207716412.

rs1482077164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:31142704 (GRCh38)
4:31144326 (GRCh37)
Canonical SPDI:: NC_000004.12:31142703:A:G
Gene:: PCDH7 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.31142704A>G, NC_000004.11:g.31144326A>G, NM_032457.4:c.3599A>G, NM_032457.3:c.3599A>G, NM_001173523.2:c.3623A>G, NM_001173523.1:c.3623A>G, NP_115833.2:p.Lys1200Arg, NP_001166994.1:p.Lys1208Arg