Canonical Allele Identifier: CA233403

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 166616
• ClinVar RCV Id: RCV000323858 ; RCV000285181 ; RCV000376503 ; RCV000381856 ; RCV000504993 ; RCV000408525 ; RCV000416254 ; RCV001073617
• dbSNP Id: rs113106943
• ExAC: 1:94487404 C / T
• gnomAD v2: 1-94487404-C-T
• gnomAD v3: 1-94021848-C-T
• gnomAD v4: 1-94021848-C-T
• MyVariant Identifiers: chr1:g.94487404C>T (hg19) ; chr1:g.94021848C>T (hg38)
• PubMed: PMID:24265693 ; PMID:25346251 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021848C>T , CM000663.2:g.94021848C>T	GRCh38
NC_000001.10:g.94487404C>T , CM000663.1:g.94487404C>T	GRCh37
NC_000001.9:g.94259992C>T	NCBI36
NG_009073.1:g.104302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4771G>A MANE Select	ENSP00000359245.3:p.Gly1591Arg
ENST00000370225.3:c.4771G>A	ENSP00000359245.3:p.Gly1591Arg
ENST00000460514.1:n.265G>A
ENST00000536513.5:c.1147G>A	ENSP00000439707.2:p.Gly383Arg
NM_000350.2:c.4771G>A	NP_000341.2:p.Gly1591Arg
NM_000350.3:c.4771G>A MANE Select	NP_000341.2:p.Gly1591Arg