Canonical Allele Identifier: CA957668

Gene: ABCA4

Linked Data

• dbSNP Id: rs749349141
• ExAC: 1:94496126 C / G
• gnomAD v2: 1-94496126-C-G
• gnomAD v4: 1-94030570-C-G
• MyVariant Identifiers: chr1:g.94496126C>G (hg19) ; chr1:g.94030570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030570C>G , CM000663.2:g.94030570C>G	GRCh38
NC_000001.10:g.94496126C>G , CM000663.1:g.94496126C>G	GRCh37
NC_000001.9:g.94268714C>G	NCBI36
NG_009073.1:g.95580G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-44G>C MANE Select	ENSP00000359245.3:n.4254-44G>C
ENST00000370225.3:c.4254-44G>C	ENSP00000359245.3:n.4254-44G>C
ENST00000536513.5:c.630-44G>C	ENSP00000439707.2:n.630-44G>C
NM_000350.2:c.4254-44G>C	NP_000341.2:n.4254-44G>C
NM_000350.3:c.4254-44G>C MANE Select	NP_000341.2:n.4254-44G>C