Canonical Allele Identifier: CA226915

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99070
• ClinVar RCV Id: RCV000085413 ; RCV000778263 ; RCV000782281 ; RCV000761253 ; RCV001074836 ; RCV000763048
• dbSNP Id: rs61748558
• ExAC: 1:94528780 C / T
• gnomAD v2: 1-94528780-C-T
• gnomAD v3: 1-94063224-C-T
• gnomAD v4: 1-94063224-C-T
• MyVariant Identifiers: chr1:g.94528780C>T (hg19) ; chr1:g.94063224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94063224C>T , CM000663.2:g.94063224C>T	GRCh38
NC_000001.10:g.94528780C>T , CM000663.1:g.94528780C>T	GRCh37
NC_000001.9:g.94301368C>T	NCBI36
NG_009073.1:g.62926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1648G>A MANE Select	ENSP00000359245.3:p.Gly550Arg
ENST00000649773.1:c.1648G>A	ENSP00000496882.1:p.Gly550Arg
ENST00000370225.3:c.1648G>A	ENSP00000359245.3:p.Gly550Arg
ENST00000536513.5:c.-115G>A	ENSP00000439707.2:n.-115G>A
NM_000350.2:c.1648G>A	NP_000341.2:p.Gly550Arg
NM_000350.3:c.1648G>A MANE Select	NP_000341.2:p.Gly550Arg