Canonical Allele Identifier: CA341277845

Gene: ABCA4

Linked Data

• dbSNP Id: rs1660985994
• gnomAD v4: 1-94056695-G-A
• MyVariant Identifiers: chr1:g.94522251G>A (hg19) ; chr1:g.94056695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056695G>A , CM000663.2:g.94056695G>A	GRCh38
NC_000001.10:g.94522251G>A , CM000663.1:g.94522251G>A	GRCh37
NC_000001.9:g.94294839G>A	NCBI36
NG_009073.1:g.69455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2288C>T MANE Select	ENSP00000359245.3:p.Ala763Val
ENST00000649773.1:c.2161-1380C>T	ENSP00000496882.1:n.2161-1380C>T
ENST00000370225.3:c.2288C>T	ENSP00000359245.3:p.Ala763Val
ENST00000536513.5:c.-65+6479C>T	ENSP00000439707.2:n.-65+6479C>T
NM_000350.2:c.2288C>T	NP_000341.2:p.Ala763Val
NM_000350.3:c.2288C>T MANE Select	NP_000341.2:p.Ala763Val