Canonical Allele Identifier: CA958157
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1116587
ClinVar RCV Id: RCV001445036
dbSNP Id: rs562861525
ExAC: 1:94512624 T / C
gnomAD v2: 1-94512624-T-C
gnomAD v3: 1-94047068-T-C
gnomAD v4: 1-94047068-T-C
MyVariant Identifiers: chr1:g.94512624T>C (hg19) chr1:g.94047068T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047068T>C , CM000663.2:g.94047068T>C GRCh38
NC_000001.10:g.94512624T>C , CM000663.1:g.94512624T>C GRCh37
NC_000001.9:g.94285212T>C NCBI36
NG_009073.1:g.79082A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2769A>G MANE Select ENSP00000359245.3:p.Pro923=
ENST00000649773.1:c.2547A>G ENSP00000496882.1:p.Pro849=
ENST00000370225.3:c.2769A>G ENSP00000359245.3:p.Pro923=
ENST00000536513.5:c.-64-6979A>G ENSP00000439707.2:n.-64-6979A>G
NM_000350.2:c.2769A>G NP_000341.2:p.Pro923=
NM_000350.3:c.2769A>G MANE Select NP_000341.2:p.Pro923=
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