Canonical Allele Identifier: CA341275371

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94046965-T-A
• MyVariant Identifiers: chr1:g.94512521T>A (hg19) ; chr1:g.94046965T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046965T>A , CM000663.2:g.94046965T>A	GRCh38
NC_000001.10:g.94512521T>A , CM000663.1:g.94512521T>A	GRCh37
NC_000001.9:g.94285109T>A	NCBI36
NG_009073.1:g.79185A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2872A>T MANE Select	ENSP00000359245.3:p.Ile958Phe
ENST00000649773.1:c.2650A>T	ENSP00000496882.1:p.Ile884Phe
ENST00000370225.3:c.2872A>T	ENSP00000359245.3:p.Ile958Phe
ENST00000536513.5:c.-64-6876A>T	ENSP00000439707.2:n.-64-6876A>T
NM_000350.2:c.2872A>T	NP_000341.2:p.Ile958Phe
NM_000350.3:c.2872A>T MANE Select	NP_000341.2:p.Ile958Phe