Canonical Allele Identifier: CA957590

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236115
• ClinVar RCV Id: RCV000408586 ; RCV001074181 ; RCV001380976 ; RCV003401161
• dbSNP Id: rs568792949
• ExAC: 1:94495021 C / T
• gnomAD v2: 1-94495021-C-T
• gnomAD v3: 1-94029465-C-T
• gnomAD v4: 1-94029465-C-T
• COSMIC: COSM2260608
• MyVariant Identifiers: chr1:g.94495021C>T (hg19) ; chr1:g.94029465C>T (hg38)
• PubMed: PMID:23499370 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029465C>T , CM000663.2:g.94029465C>T	GRCh38
NC_000001.10:g.94495021C>T , CM000663.1:g.94495021C>T	GRCh37
NC_000001.9:g.94267609C>T	NCBI36
NG_009073.1:g.96685G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4519G>A MANE Select	ENSP00000359245.3:p.Gly1507Arg
ENST00000370225.3:c.4519G>A	ENSP00000359245.3:p.Gly1507Arg
ENST00000536513.5:c.895G>A	ENSP00000439707.2:p.Gly299Arg
NM_000350.2:c.4519G>A	NP_000341.2:p.Gly1507Arg
NM_000350.3:c.4519G>A MANE Select	NP_000341.2:p.Gly1507Arg