Canonical Allele Identifier: CA227369

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99431
• ClinVar RCV Id: RCV000085790 ; RCV000763435 ; RCV000787772 ; RCV001073783 ; RCV002283455
• dbSNP Id: rs61753038
• ExAC: 1:94471026 G / A
• gnomAD v2: 1-94471026-G-A
• gnomAD v3: 1-94005470-G-A
• gnomAD v4: 1-94005470-G-A
• COSMIC: COSM3493450
• MyVariant Identifiers: chr1:g.94471026G>A (hg19) ; chr1:g.94005470G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94005470G>A , CM000663.2:g.94005470G>A	GRCh38
NC_000001.10:g.94471026G>A , CM000663.1:g.94471026G>A	GRCh37
NC_000001.9:g.94243614G>A	NCBI36
NG_009073.1:g.120680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6118C>T MANE Select	ENSP00000359245.3:p.Arg2040Ter
ENST00000370225.3:c.6118C>T	ENSP00000359245.3:p.Arg2040Ter
ENST00000465352.1:n.534C>T
ENST00000484388.1:n.232C>T
ENST00000536513.5:c.2494C>T	ENSP00000439707.2:p.Arg832Ter
NM_000350.2:c.6118C>T	NP_000341.2:p.Arg2040Ter
NM_000350.3:c.6118C>T MANE Select	NP_000341.2:p.Arg2040Ter