Canonical Allele Identifier: CA369220969
Gene: OPN1SW HGNC NCBI

Linked Data

gnomAD v4: 7-128775149-C-G
MyVariant Identifiers: chr7:g.128415203C>G (hg19) chr7:g.128775149C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128775149C>G , CM000669.2:g.128775149C>G GRCh38
NC_000007.13:g.128415203C>G , CM000669.1:g.128415203C>G GRCh37
NC_000007.12:g.128202439C>G NCBI36
NG_009094.1:g.5642G>C
NG_033110.1:g.40858C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249389.3:c.349G>C MANE Select ENSP00000249389.3:p.Val117Leu
ENST00000249389.2:c.358G>C ENSP00000249389.2:p.Val120Leu
NM_001708.2:c.358G>C NP_001699.1:p.Val120Leu
NM_001385125.1:c.349G>C MANE Select NP_001372054.1:p.Val117Leu
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