Canonical Allele Identifier: CA341275558

Gene: ABCA4

Linked Data

• dbSNP Id: rs1302568799
• MyVariant Identifiers: chr1:g.94512617C>A (hg19) ; chr1:g.94047061C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2776G>T MANE Select	ENSP00000359245.3:p.Val926Phe
ENST00000649773.1:c.2554G>T	ENSP00000496882.1:p.Val852Phe
ENST00000370225.3:c.2776G>T	ENSP00000359245.3:p.Val926Phe
ENST00000536513.5:c.-64-6972G>T	ENSP00000439707.2:n.-64-6972G>T
NM_000350.2:c.2776G>T	NP_000341.2:p.Val926Phe
NM_000350.3:c.2776G>T MANE Select	NP_000341.2:p.Val926Phe