Canonical Allele Identifier: CA341275560

Gene: ABCA4

Linked Data

• dbSNP Id: rs1302568799
• gnomAD v4: 1-94047061-C-T
• MyVariant Identifiers: chr1:g.94512617C>T (hg19) ; chr1:g.94047061C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047061C>T , CM000663.2:g.94047061C>T	GRCh38
NC_000001.10:g.94512617C>T , CM000663.1:g.94512617C>T	GRCh37
NC_000001.9:g.94285205C>T	NCBI36
NG_009073.1:g.79089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2776G>A MANE Select	ENSP00000359245.3:p.Val926Ile
ENST00000649773.1:c.2554G>A	ENSP00000496882.1:p.Val852Ile
ENST00000370225.3:c.2776G>A	ENSP00000359245.3:p.Val926Ile
ENST00000536513.5:c.-64-6972G>A	ENSP00000439707.2:n.-64-6972G>A
NM_000350.2:c.2776G>A	NP_000341.2:p.Val926Ile
NM_000350.3:c.2776G>A MANE Select	NP_000341.2:p.Val926Ile