Canonical Allele Identifier: CA62694673
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs892506994
gnomAD v2: 2-191879289-T-A
gnomAD v3: 2-191014563-T-A
gnomAD v4: 2-191014563-T-A
MyVariant Identifiers: chr2:g.191879289T>A (hg19) chr2:g.191014563T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191014563T>A , CM000664.2:g.191014563T>A GRCh38
NC_000002.11:g.191879289T>A , CM000664.1:g.191879289T>A GRCh37
NC_000002.10:g.191587534T>A NCBI36
NG_008294.1:g.4688A>T , LRG_111:g.4688A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432058.1:c.-155-885A>T ENSP00000416019.1:n.-155-885A>T
ENST00000454414.5:c.-1-4559A>T ENSP00000411398.1:n.-1-4559A>T
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