Canonical Allele Identifier: CA957957
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs372948027
ExAC: 1:94506942 C / T
gnomAD v2: 1-94506942-C-T
gnomAD v4: 1-94041386-C-T
MyVariant Identifiers: chr1:g.94506942C>T (hg19) chr1:g.94041386C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041386C>T , CM000663.2:g.94041386C>T GRCh38
NC_000001.10:g.94506942C>T , CM000663.1:g.94506942C>T GRCh37
NC_000001.9:g.94279530C>T NCBI36
NG_009073.1:g.84764G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3345G>A MANE Select ENSP00000359245.3:p.Met1115Ile
ENST00000370225.3:c.3345G>A ENSP00000359245.3:p.Met1115Ile
ENST00000536513.5:c.-64-1297G>A ENSP00000439707.2:n.-64-1297G>A
NM_000350.2:c.3345G>A NP_000341.2:p.Met1115Ile
NM_000350.3:c.3345G>A MANE Select NP_000341.2:p.Met1115Ile
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