Canonical Allele Identifier: CA113830
Gene: OPN1SW HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.128774545A>G
GRCh37 chr7:g.128414599A>G
Revel Score:
ENST00000249389 (MANE Select) 0.266
gnomAD v2:
7:128414599 A / G
gnomAD v3:
7:128774545 A / G
gnomAD v4:
chr7-128774545-A-G
Joint Max Group AF 0.00001803 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar RCV:
RCV000000080
RCV002512587
ClinVar Variation:
63
dbSNP:
104894032
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000249389.3:c.631T>C MANE Select ENSP00000249389.3:p.Ser211Pro
ENST00000249389.2:c.640T>C ENSP00000249389.2:p.Ser214Pro
NM_001708.2:c.640T>C NP_001699.1:p.Ser214Pro
NM_001385125.1:c.631T>C MANE Select NP_001372054.1:p.Ser211Pro
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