Canonical Allele Identifier: CA227388

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99447
• ClinVar RCV Id: RCV000085806 ; RCV000408484 ; RCV001075529 ; RCV004017397
• dbSNP Id: rs61750648
• ExAC: 1:94466628 G / A
• gnomAD v2: 1-94466628-G-A
• gnomAD v3: 1-94001072-G-A
• gnomAD v4: 1-94001072-G-A
• MyVariant Identifiers: chr1:g.94466628G>A (hg19) ; chr1:g.94001072G>A (hg38)
• PubMed: PMID:9054934 ; PMID:25283059 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001072G>A , CM000663.2:g.94001072G>A	GRCh38
NC_000001.10:g.94466628G>A , CM000663.1:g.94466628G>A	GRCh37
NC_000001.9:g.94239216G>A	NCBI36
NG_009073.1:g.125078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6316C>T MANE Select	ENSP00000359245.3:p.Arg2106Cys
ENST00000370225.3:c.6316C>T	ENSP00000359245.3:p.Arg2106Cys
ENST00000536513.5:c.2692C>T	ENSP00000439707.2:p.Arg898Cys
NM_000350.2:c.6316C>T	NP_000341.2:p.Arg2106Cys
NM_000350.3:c.6316C>T MANE Select	NP_000341.2:p.Arg2106Cys