Canonical Allele Identifier: CA226965

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99108
• ClinVar RCV Id: RCV000085452 ; RCV000408546 ; RCV000763047 ; RCV001074668
• dbSNP Id: rs61749420
• ExAC: 1:94526296 G / A
• gnomAD v2: 1-94526296-G-A
• gnomAD v3: 1-94060740-G-A
• gnomAD v4: 1-94060740-G-A
• MyVariant Identifiers: chr1:g.94526296G>A (hg19) ; chr1:g.94060740G>A (hg38)
• PubMed: PMID:10958763 ; PMID:23776498 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060740G>A , CM000663.2:g.94060740G>A	GRCh38
NC_000001.10:g.94526296G>A , CM000663.1:g.94526296G>A	GRCh37
NC_000001.9:g.94298884G>A	NCBI36
NG_009073.1:g.65410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1957C>T MANE Select	ENSP00000359245.3:p.Arg653Cys
ENST00000649773.1:c.1957C>T	ENSP00000496882.1:p.Arg653Cys
ENST00000370225.3:c.1957C>T	ENSP00000359245.3:p.Arg653Cys
ENST00000472033.1:n.77C>T
ENST00000536513.5:c.-65+2434C>T	ENSP00000439707.2:n.-65+2434C>T
NM_000350.2:c.1957C>T	NP_000341.2:p.Arg653Cys
NM_000350.3:c.1957C>T MANE Select	NP_000341.2:p.Arg653Cys