Canonical Allele Identifier: CA227215

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99301
• ClinVar RCV Id: RCV000085654 ; RCV000402682 ; RCV000408574 ; RCV000844929 ; RCV001100156
• dbSNP Id: rs62646862
• ExAC: 1:94568686 C / T
• gnomAD v2: 1-94568686-C-T
• gnomAD v3: 1-94103130-C-T
• gnomAD v4: 1-94103130-C-T
• MyVariant Identifiers: chr1:g.94568686C>T (hg19) ; chr1:g.94103130C>T (hg38)
• PubMed: PMID:11385708 ; PMID:22264887 ; PMID:23143460 ; PMID:25525159 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94103130C>T , CM000663.2:g.94103130C>T	GRCh38
NC_000001.10:g.94568686C>T , CM000663.1:g.94568686C>T	GRCh37
NC_000001.9:g.94341274C>T	NCBI36
NG_009073.1:g.23020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.455G>A MANE Select	ENSP00000359245.3:p.Arg152Gln
ENST00000649773.1:c.455G>A	ENSP00000496882.1:p.Arg152Gln
ENST00000370225.3:c.455G>A	ENSP00000359245.3:p.Arg152Gln
NM_000350.2:c.455G>A	NP_000341.2:p.Arg152Gln
NM_000350.3:c.455G>A MANE Select	NP_000341.2:p.Arg152Gln