Canonical Allele Identifier: CA227201

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99290
• ClinVar RCV Id: RCV000085643 ; RCV001073995
• dbSNP Id: rs61750149
• ExAC: 1:94495034 G / A
• gnomAD v2: 1-94495034-G-A
• gnomAD v3: 1-94029478-G-A
• gnomAD v4: 1-94029478-G-A
• MyVariant Identifiers: chr1:g.94495034G>A (hg19) ; chr1:g.94029478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029478G>A , CM000663.2:g.94029478G>A	GRCh38
NC_000001.10:g.94495034G>A , CM000663.1:g.94495034G>A	GRCh37
NC_000001.9:g.94267622G>A	NCBI36
NG_009073.1:g.96672C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.4506C>T MANE Select	ENSP00000359245.3:p.Cys1502=
ENST00000370225.3:c.4506C>T	ENSP00000359245.3:p.Cys1502=
ENST00000536513.5:c.882C>T	ENSP00000439707.2:p.Cys294=
NM_000350.2:c.4506C>T	NP_000341.2:p.Cys1502=
NM_000350.3:c.4506C>T MANE Select	NP_000341.2:p.Cys1502=