Canonical Allele Identifier: CA227253

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99330
• ClinVar RCV Id: RCV000085683 ; RCV000210311 ; RCV000505114 ; RCV000408519 ; RCV000787504 ; RCV002505017
• dbSNP Id: rs61751404
• ExAC: 1:94486896 G / A
• gnomAD v2: 1-94486896-G-A
• gnomAD v3: 1-94021340-G-A
• gnomAD v4: 1-94021340-G-A
• MyVariant Identifiers: chr1:g.94486896G>A (hg19) ; chr1:g.94021340G>A (hg38)
• PubMed: PMID:9781034 ; PMID:11687513 ; PMID:25082885 ; PMID:26872967 ; PMID:28041643 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021340G>A , CM000663.2:g.94021340G>A	GRCh38
NC_000001.10:g.94486896G>A , CM000663.1:g.94486896G>A	GRCh37
NC_000001.9:g.94259484G>A	NCBI36
NG_009073.1:g.104810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4918C>T MANE Select	ENSP00000359245.3:p.Arg1640Trp
ENST00000370225.3:c.4918C>T	ENSP00000359245.3:p.Arg1640Trp
ENST00000460514.1:n.412C>T
ENST00000470771.1:n.28C>T
ENST00000536513.5:c.1294C>T	ENSP00000439707.2:p.Arg432Trp
NM_000350.2:c.4918C>T	NP_000341.2:p.Arg1640Trp
NM_000350.3:c.4918C>T MANE Select	NP_000341.2:p.Arg1640Trp