Canonical Allele Identifier: CA538477280
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1388169189
gnomAD v2: 2-191879399-A-G
gnomAD v3: 2-191014673-A-G
gnomAD v4: 2-191014673-A-G
MyVariant Identifiers: chr2:g.191879399A>G (hg19) chr2:g.191014673A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191014673A>G , CM000664.2:g.191014673A>G GRCh38
NC_000002.11:g.191879399A>G , CM000664.1:g.191879399A>G GRCh37
NC_000002.10:g.191587644A>G NCBI36
NG_008294.1:g.4578T>C , LRG_111:g.4578T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432058.1:c.-155-995T>C ENSP00000416019.1:n.-155-995T>C
ENST00000454414.5:c.-1-4669T>C ENSP00000411398.1:n.-1-4669T>C
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