Canonical Allele Identifier: CA958168

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 2875223
• ClinVar RCV Id: RCV003707098
• dbSNP Id: rs763466697
• ExAC: 1:94512662 A / G
• gnomAD v2: 1-94512662-A-G
• gnomAD v3: 1-94047106-A-G
• gnomAD v4: 1-94047106-A-G
• MyVariant Identifiers: chr1:g.94512662A>G (hg19) ; chr1:g.94047106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047106A>G , CM000663.2:g.94047106A>G	GRCh38
NC_000001.10:g.94512662A>G , CM000663.1:g.94512662A>G	GRCh37
NC_000001.9:g.94285250A>G	NCBI36
NG_009073.1:g.79044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-13T>C MANE Select	ENSP00000359245.3:n.2744-13T>C
ENST00000649773.1:c.2522-13T>C	ENSP00000496882.1:n.2522-13T>C
ENST00000370225.3:c.2744-13T>C	ENSP00000359245.3:n.2744-13T>C
ENST00000536513.5:c.-64-7017T>C	ENSP00000439707.2:n.-64-7017T>C
NM_000350.2:c.2744-13T>C	NP_000341.2:n.2744-13T>C
NM_000350.3:c.2744-13T>C MANE Select	NP_000341.2:n.2744-13T>C