Canonical Allele Identifier: CA958120

Gene: ABCA4

Linked Data

• dbSNP Id: rs777360362
• ExAC: 1:94512448 A / G
• gnomAD v2: 1-94512448-A-G
• gnomAD v4: 1-94046892-A-G
• MyVariant Identifiers: chr1:g.94512448A>G (hg19) ; chr1:g.94046892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046892A>G , CM000663.2:g.94046892A>G	GRCh38
NC_000001.10:g.94512448A>G , CM000663.1:g.94512448A>G	GRCh37
NC_000001.9:g.94285036A>G	NCBI36
NG_009073.1:g.79258T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+27T>C MANE Select	ENSP00000359245.3:n.2918+27T>C
ENST00000649773.1:c.2696+27T>C	ENSP00000496882.1:n.2696+27T>C
ENST00000370225.3:c.2918+27T>C	ENSP00000359245.3:n.2918+27T>C
ENST00000536513.5:c.-64-6803T>C	ENSP00000439707.2:n.-64-6803T>C
NM_000350.2:c.2918+27T>C	NP_000341.2:n.2918+27T>C
NM_000350.3:c.2918+27T>C MANE Select	NP_000341.2:n.2918+27T>C