Canonical Allele Identifier: CA227037

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99162
• ClinVar RCV Id: RCV000085510 ; RCV001074959 ; RCV003330430 ; RCV004529885
• dbSNP Id: rs61749446
• ExAC: 1:94512566 G / A
• gnomAD v2: 1-94512566-G-A
• gnomAD v3: 1-94047010-G-A
• gnomAD v4: 1-94047010-G-A
• COSMIC: COSM3493478 ; COSM3493479
• MyVariant Identifiers: chr1:g.94512566G>A (hg19) ; chr1:g.94047010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047010G>A , CM000663.2:g.94047010G>A	GRCh38
NC_000001.10:g.94512566G>A , CM000663.1:g.94512566G>A	GRCh37
NC_000001.9:g.94285154G>A	NCBI36
NG_009073.1:g.79140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2827C>T MANE Select	ENSP00000359245.3:p.Arg943Trp
ENST00000649773.1:c.2605C>T	ENSP00000496882.1:p.Arg869Trp
ENST00000370225.3:c.2827C>T	ENSP00000359245.3:p.Arg943Trp
ENST00000536513.5:c.-64-6921C>T	ENSP00000439707.2:n.-64-6921C>T
NM_000350.2:c.2827C>T	NP_000341.2:p.Arg943Trp
NM_000350.3:c.2827C>T MANE Select	NP_000341.2:p.Arg943Trp