Canonical Allele Identifier: CA227051

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99174
• ClinVar RCV Id: RCV000085523 ; RCV000504717 ; RCV000505078 ; RCV002498454
• dbSNP Id: rs61749451
• ExAC: 1:94512478 G / T
• gnomAD v2: 1-94512478-G-T
• gnomAD v3: 1-94046922-G-T
• gnomAD v4: 1-94046922-G-T
• MyVariant Identifiers: chr1:g.94512478G>T (hg19) ; chr1:g.94046922G>T (hg38)
• PubMed: PMID:11594993 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046922G>T , CM000663.2:g.94046922G>T	GRCh38
NC_000001.10:g.94512478G>T , CM000663.1:g.94512478G>T	GRCh37
NC_000001.9:g.94285066G>T	NCBI36
NG_009073.1:g.79228C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2915C>A MANE Select	ENSP00000359245.3:p.Thr972Asn
ENST00000649773.1:c.2693C>A	ENSP00000496882.1:p.Thr898Asn
ENST00000370225.3:c.2915C>A	ENSP00000359245.3:p.Thr972Asn
ENST00000536513.5:c.-64-6833C>A	ENSP00000439707.2:n.-64-6833C>A
NM_000350.2:c.2915C>A	NP_000341.2:p.Thr972Asn
NM_000350.3:c.2915C>A MANE Select	NP_000341.2:p.Thr972Asn