Canonical Allele Identifier: CA956787
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 874699
ClinVar RCV Id: RCV001097881 RCV001856321 RCV002489742
dbSNP Id: rs372234578
ExAC: 1:94461676 G / A
gnomAD v2: 1-94461676-G-A
gnomAD v4: 1-93996120-G-A
MyVariant Identifiers: chr1:g.94461676G>A (hg19) chr1:g.93996120G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996120G>A , CM000663.2:g.93996120G>A GRCh38
NC_000001.10:g.94461676G>A , CM000663.1:g.94461676G>A GRCh37
NC_000001.9:g.94234264G>A NCBI36
NG_009073.1:g.130030C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6805C>T MANE Select ENSP00000359245.3:p.Arg2269Ter
ENST00000370225.3:c.6805C>T ENSP00000359245.3:p.Arg2269Ter
ENST00000536513.5:c.3181C>T ENSP00000439707.2:p.Arg1061Ter
NM_000350.2:c.6805C>T NP_000341.2:p.Arg2269Ter
NM_000350.3:c.6805C>T MANE Select NP_000341.2:p.Arg2269Ter
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