Canonical Allele Identifier: CA227113

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 30218
• ClinVar RCV Id: RCV000023141 ; RCV000085574 ; RCV000504768 ; RCV001073572
• dbSNP Id: rs61751399
• ExAC: 1:94506923 C / T
• gnomAD v2: 1-94506923-C-T
• gnomAD v3: 1-94041367-C-T
• gnomAD v4: 1-94041367-C-T
• MyVariant Identifiers: chr1:g.94506923C>T (hg19) ; chr1:g.94041367C>T (hg38)
• PubMed: PMID:9973280 ; PMID:10396622 ; PMID:10746567 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041367C>T , CM000663.2:g.94041367C>T	GRCh38
NC_000001.10:g.94506923C>T , CM000663.1:g.94506923C>T	GRCh37
NC_000001.9:g.94279511C>T	NCBI36
NG_009073.1:g.84783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3364G>A MANE Select	ENSP00000359245.3:p.Glu1122Lys
ENST00000370225.3:c.3364G>A	ENSP00000359245.3:p.Glu1122Lys
ENST00000536513.5:c.-64-1278G>A	ENSP00000439707.2:n.-64-1278G>A
NM_000350.2:c.3364G>A	NP_000341.2:p.Glu1122Lys
NM_000350.3:c.3364G>A MANE Select	NP_000341.2:p.Glu1122Lys