Canonical Allele Identifier: CA1316291053
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1695453153
gnomAD v3: 2-191014772-G-A
gnomAD v4: 2-191014772-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191014772G>A , CM000664.2:g.191014772G>A GRCh38
NC_000002.11:g.191879498G>A , CM000664.1:g.191879498G>A GRCh37
NC_000002.10:g.191587743G>A NCBI36
NG_008294.1:g.4479C>T , LRG_111:g.4479C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000432058.1:c.-155-1094C>T ENSP00000416019.1:n.-155-1094C>T
ENST00000454414.5:c.-1-4768C>T ENSP00000411398.1:n.-1-4768C>T
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