Canonical Allele Identifier: CA227078

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99196
• ClinVar RCV Id: RCV000085545 ; RCV000408496 ; RCV003324507 ; RCV004529887
• dbSNP Id: rs61749459
• ExAC: 1:94509018 C / T
• gnomAD v2: 1-94509018-C-T
• gnomAD v4: 1-94043462-C-T
• MyVariant Identifiers: chr1:g.94509018C>T (hg19) ; chr1:g.94043462C>T (hg38)
• PubMed: PMID:11702214 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043462C>T , CM000663.2:g.94043462C>T	GRCh38
NC_000001.10:g.94509018C>T , CM000663.1:g.94509018C>T	GRCh37
NC_000001.9:g.94281606C>T	NCBI36
NG_009073.1:g.82688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3064G>A MANE Select	ENSP00000359245.3:p.Glu1022Lys
ENST00000370225.3:c.3064G>A	ENSP00000359245.3:p.Glu1022Lys
ENST00000536513.5:c.-64-3373G>A	ENSP00000439707.2:n.-64-3373G>A
NM_000350.2:c.3064G>A	NP_000341.2:p.Glu1022Lys
NM_000350.3:c.3064G>A MANE Select	NP_000341.2:p.Glu1022Lys