Canonical Allele Identifier: CA227389

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99448
• ClinVar RCV Id: RCV000085807 ; RCV000408534 ; RCV000505080 ; RCV001074412 ; RCV004528786 ; RCV004017398
• dbSNP Id: rs62642564
• ExAC: 1:94466624 C / T
• gnomAD v2: 1-94466624-C-T
• gnomAD v3: 1-94001068-C-T
• gnomAD v4: 1-94001068-C-T
• COSMIC: COSM913440
• MyVariant Identifiers: chr1:g.94466624C>T (hg19) ; chr1:g.94001068C>T (hg38)
• PubMed: PMID:9781034 ; PMID:22025579 ; PMID:22264887 ; PMID:22995991 ; PMID:25283059 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001068C>T , CM000663.2:g.94001068C>T	GRCh38
NC_000001.10:g.94466624C>T , CM000663.1:g.94466624C>T	GRCh37
NC_000001.9:g.94239212C>T	NCBI36
NG_009073.1:g.125082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6320G>A MANE Select	ENSP00000359245.3:p.Arg2107His
ENST00000370225.3:c.6320G>A	ENSP00000359245.3:p.Arg2107His
ENST00000536513.5:c.2696G>A	ENSP00000439707.2:p.Arg899His
NM_000350.2:c.6320G>A	NP_000341.2:p.Arg2107His
NM_000350.3:c.6320G>A MANE Select	NP_000341.2:p.Arg2107His