Canonical Allele Identifier: CA762423254
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1391898741
gnomAD v3: 2-191014689-C-T
gnomAD v4: 2-191014689-C-T
MyVariant Identifiers: chr2:g.191879415C>T (hg19) chr2:g.191014689C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191014689C>T , CM000664.2:g.191014689C>T GRCh38
NC_000002.11:g.191879415C>T , CM000664.1:g.191879415C>T GRCh37
NC_000002.10:g.191587660C>T NCBI36
NG_008294.1:g.4562G>A , LRG_111:g.4562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432058.1:c.-155-1011G>A ENSP00000416019.1:n.-155-1011G>A
ENST00000454414.5:c.-1-4685G>A ENSP00000411398.1:n.-1-4685G>A
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