Canonical Allele Identifier: CA957921
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs751595372
ExAC: 1:94506773 C / T
gnomAD v2: 1-94506773-C-T
gnomAD v4: 1-94041217-C-T
MyVariant Identifiers: chr1:g.94506773C>T (hg19) chr1:g.94041217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041217C>T , CM000663.2:g.94041217C>T GRCh38
NC_000001.10:g.94506773C>T , CM000663.1:g.94506773C>T GRCh37
NC_000001.9:g.94279361C>T NCBI36
NG_009073.1:g.84933G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3514G>A MANE Select ENSP00000359245.3:p.Gly1172Ser
ENST00000370225.3:c.3514G>A ENSP00000359245.3:p.Gly1172Ser
ENST00000536513.5:c.-64-1128G>A ENSP00000439707.2:n.-64-1128G>A
NM_000350.2:c.3514G>A NP_000341.2:p.Gly1172Ser
NM_000350.3:c.3514G>A MANE Select NP_000341.2:p.Gly1172Ser
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