Canonical Allele Identifier: CA958427

Gene: ABCA4

Linked Data

• dbSNP Id: rs778508149
• ExAC: 1:94528331 A / G
• gnomAD v2: 1-94528331-A-G
• gnomAD v4: 1-94062775-A-G
• MyVariant Identifiers: chr1:g.94528331A>G (hg19) ; chr1:g.94062775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062775A>G , CM000663.2:g.94062775A>G	GRCh38
NC_000001.10:g.94528331A>G , CM000663.1:g.94528331A>G	GRCh37
NC_000001.9:g.94300919A>G	NCBI36
NG_009073.1:g.63375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-22T>C MANE Select	ENSP00000359245.3:n.1761-22T>C
ENST00000649773.1:c.1761-22T>C	ENSP00000496882.1:n.1761-22T>C
ENST00000370225.3:c.1761-22T>C	ENSP00000359245.3:n.1761-22T>C
ENST00000536513.5:c.-65+399T>C	ENSP00000439707.2:n.-65+399T>C
NM_000350.2:c.1761-22T>C	NP_000341.2:n.1761-22T>C
NM_000350.3:c.1761-22T>C MANE Select	NP_000341.2:n.1761-22T>C