Canonical Allele Identifier: CA957497

Gene: ABCA4

Linked Data

• dbSNP Id: rs370013900
• ExAC: 1:94487447 A / G
• gnomAD v2: 1-94487447-A-G
• gnomAD v4: 1-94021891-A-G
• MyVariant Identifiers: chr1:g.94487447A>G (hg19) ; chr1:g.94021891A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021891A>G , CM000663.2:g.94021891A>G	GRCh38
NC_000001.10:g.94487447A>G , CM000663.1:g.94487447A>G	GRCh37
NC_000001.9:g.94260035A>G	NCBI36
NG_009073.1:g.104259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4728T>C MANE Select	ENSP00000359245.3:p.Leu1576=
ENST00000370225.3:c.4728T>C	ENSP00000359245.3:p.Leu1576=
ENST00000460514.1:n.222T>C
ENST00000536513.5:c.1104T>C	ENSP00000439707.2:p.Leu368=
NM_000350.2:c.4728T>C	NP_000341.2:p.Leu1576=
NM_000350.3:c.4728T>C MANE Select	NP_000341.2:p.Leu1576=