Canonical Allele Identifier: CA227169

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99263
• ClinVar RCV Id: RCV000085616 ; RCV000408549 ; RCV001074847 ; RCV002490742 ; RCV003155072
• dbSNP Id: rs61750137
• gnomAD v2: 1-94496571-G-A
• gnomAD v3: 1-94031015-G-A
• gnomAD v4: 1-94031015-G-A
• MyVariant Identifiers: chr1:g.94496571G>A (hg19) ; chr1:g.94031015G>A (hg38)
• PubMed: PMID:10090887 ; PMID:24713488 ; PMID:25283059 ; PMID:25525159 ; PMID:25640233 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031015G>A , CM000663.2:g.94031015G>A	GRCh38
NC_000001.10:g.94496571G>A , CM000663.1:g.94496571G>A	GRCh37
NC_000001.9:g.94269159G>A	NCBI36
NG_009073.1:g.95135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4234C>T MANE Select	ENSP00000359245.3:p.Gln1412Ter
ENST00000370225.3:c.4234C>T	ENSP00000359245.3:p.Gln1412Ter
ENST00000536513.5:c.610C>T	ENSP00000439707.2:p.Gln204Ter
NM_000350.2:c.4234C>T	NP_000341.2:p.Gln1412Ter
NM_000350.3:c.4234C>T MANE Select	NP_000341.2:p.Gln1412Ter