Canonical Allele Identifier: CA958116

Gene: ABCA4

Linked Data

• dbSNP Id: rs754511406
• ExAC: 1:94512427 G / C
• gnomAD v2: 1-94512427-G-C
• gnomAD v3: 1-94046871-G-C
• gnomAD v4: 1-94046871-G-C
• MyVariant Identifiers: chr1:g.94512427G>C (hg19) ; chr1:g.94046871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046871G>C , CM000663.2:g.94046871G>C	GRCh38
NC_000001.10:g.94512427G>C , CM000663.1:g.94512427G>C	GRCh37
NC_000001.9:g.94285015G>C	NCBI36
NG_009073.1:g.79279C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2918+48C>G MANE Select	ENSP00000359245.3:n.2918+48C>G
ENST00000649773.1:c.2696+48C>G	ENSP00000496882.1:n.2696+48C>G
ENST00000370225.3:c.2918+48C>G	ENSP00000359245.3:n.2918+48C>G
ENST00000536513.5:c.-64-6782C>G	ENSP00000439707.2:n.-64-6782C>G
NM_000350.2:c.2918+48C>G	NP_000341.2:n.2918+48C>G
NM_000350.3:c.2918+48C>G MANE Select	NP_000341.2:n.2918+48C>G