Canonical Allele Identifier: CA4472893
Gene: OPN1SW HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.128774545A>C
GRCh37 chr7:g.128414599A>C
Revel Score:
ENST00000249389 (MANE Select) 0.013
gnomAD v2:
7:128414599 A / C
gnomAD v3:
7:128774545 A / C
gnomAD v4:
chr7-128774545-A-C
Joint Max Group AF 0.00008832 (EAS)
Exomes Max Group AF 0.00008198 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128774545A>C , CM000669.2:g.128774545A>C GRCh38
NC_000007.13:g.128414599A>C , CM000669.1:g.128414599A>C GRCh37
NC_000007.12:g.128201835A>C NCBI36
NG_009094.1:g.6246T>G
NG_033110.1:g.40254A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249389.3:c.631T>G MANE Select ENSP00000249389.3:p.Ser211Ala
ENST00000249389.2:c.640T>G ENSP00000249389.2:p.Ser214Ala
NM_001708.2:c.640T>G NP_001699.1:p.Ser214Ala
NM_001385125.1:c.631T>G MANE Select NP_001372054.1:p.Ser211Ala
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