Canonical Allele Identifier: CA957672

Gene: ABCA4

Linked Data

• dbSNP Id: rs184483315
• ExAC: 1:94496505 G / C
• gnomAD v2: 1-94496505-G-C
• gnomAD v3: 1-94030949-G-C
• gnomAD v4: 1-94030949-G-C
• MyVariant Identifiers: chr1:g.94496505G>C (hg19) ; chr1:g.94030949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030949G>C , CM000663.2:g.94030949G>C	GRCh38
NC_000001.10:g.94496505G>C , CM000663.1:g.94496505G>C	GRCh37
NC_000001.9:g.94269093G>C	NCBI36
NG_009073.1:g.95201C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.4253+47C>G MANE Select	ENSP00000359245.3:n.4253+47C>G
ENST00000370225.3:c.4253+47C>G	ENSP00000359245.3:n.4253+47C>G
ENST00000536513.5:c.629+47C>G	ENSP00000439707.2:n.629+47C>G
NM_000350.2:c.4253+47C>G	NP_000341.2:n.4253+47C>G
NM_000350.3:c.4253+47C>G MANE Select	NP_000341.2:n.4253+47C>G