Canonical Allele Identifier: CA227010

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99143
• ClinVar RCV Id: RCV000085487 ; RCV000504877 ; RCV001075467
• dbSNP Id: rs61749437
• gnomAD v2: 1-94520694-C-T
• gnomAD v3: 1-94055138-C-T
• gnomAD v4: 1-94055138-C-T
• MyVariant Identifiers: chr1:g.94520694C>T (hg19) ; chr1:g.94055138C>T (hg38)
• PubMed: PMID:11328725 ; PMID:23891399 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94055138C>T , CM000663.2:g.94055138C>T	GRCh38
NC_000001.10:g.94520694C>T , CM000663.1:g.94520694C>T	GRCh37
NC_000001.9:g.94293282C>T	NCBI36
NG_009073.1:g.71012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2560G>A MANE Select	ENSP00000359245.3:p.Ala854Thr
ENST00000649773.1:c.2338G>A	ENSP00000496882.1:p.Ala780Thr
ENST00000370225.3:c.2560G>A	ENSP00000359245.3:p.Ala854Thr
ENST00000536513.5:c.-65+8036G>A	ENSP00000439707.2:n.-65+8036G>A
NM_000350.2:c.2560G>A	NP_000341.2:p.Ala854Thr
NM_000350.3:c.2560G>A MANE Select	NP_000341.2:p.Ala854Thr