Canonical Allele Identifier: CA957952
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2134146
ClinVar RCV Id: RCV003044788
dbSNP Id: rs146117512
ExAC: 1:94506924 G / T
gnomAD v2: 1-94506924-G-T
gnomAD v4: 1-94041368-G-T
MyVariant Identifiers: chr1:g.94506924G>T (hg19) chr1:g.94041368G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041368G>T , CM000663.2:g.94041368G>T GRCh38
NC_000001.10:g.94506924G>T , CM000663.1:g.94506924G>T GRCh37
NC_000001.9:g.94279512G>T NCBI36
NG_009073.1:g.84782C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3363C>A MANE Select ENSP00000359245.3:p.Asp1121Glu
ENST00000370225.3:c.3363C>A ENSP00000359245.3:p.Asp1121Glu
ENST00000536513.5:c.-64-1279C>A ENSP00000439707.2:n.-64-1279C>A
NM_000350.2:c.3363C>A NP_000341.2:p.Asp1121Glu
NM_000350.3:c.3363C>A MANE Select NP_000341.2:p.Asp1121Glu
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