Canonical Allele Identifier: CA524697394

Gene: ABCA4

Linked Data

• dbSNP Id: rs1423505258
• gnomAD v2: 1-94486713-G-A
• gnomAD v3: 1-94021157-G-A
• gnomAD v4: 1-94021157-G-A
• MyVariant Identifiers: chr1:g.94486713G>A (hg19) ; chr1:g.94021157G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021157G>A , CM000663.2:g.94021157G>A	GRCh38
NC_000001.10:g.94486713G>A , CM000663.1:g.94486713G>A	GRCh37
NC_000001.9:g.94259301G>A	NCBI36
NG_009073.1:g.104993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5018+83C>T MANE Select	ENSP00000359245.3:n.5018+83C>T
ENST00000370225.3:c.5018+83C>T	ENSP00000359245.3:n.5018+83C>T
ENST00000460514.1:n.512+83C>T
ENST00000470771.1:n.128+83C>T
ENST00000536513.5:c.1394+83C>T	ENSP00000439707.2:n.1394+83C>T
NM_000350.2:c.5018+83C>T	NP_000341.2:n.5018+83C>T
NM_000350.3:c.5018+83C>T MANE Select	NP_000341.2:n.5018+83C>T