Canonical Allele Identifier: CA227174

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99267
• ClinVar RCV Id: RCV000085620 ; RCV000504676 ; RCV001073983 ; RCV004529889
• dbSNP Id: rs61750138
• ExAC: 1:94496547 C / A
• gnomAD v2: 1-94496547-C-A
• gnomAD v3: 1-94030991-C-A
• gnomAD v4: 1-94030991-C-A
• MyVariant Identifiers: chr1:g.94496547C>A (hg19) ; chr1:g.94030991C>A (hg38)
• PubMed: PMID:9973280 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030991C>A , CM000663.2:g.94030991C>A	GRCh38
NC_000001.10:g.94496547C>A , CM000663.1:g.94496547C>A	GRCh37
NC_000001.9:g.94269135C>A	NCBI36
NG_009073.1:g.95159G>T

Transcript Alleles

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