Canonical Allele Identifier: CA538477257
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1344415228
gnomAD v2: 2-191879302-A-C
gnomAD v3: 2-191014576-A-C
gnomAD v4: 2-191014576-A-C
MyVariant Identifiers: chr2:g.191879302A>C (hg19) chr2:g.191014576A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191014576A>C , CM000664.2:g.191014576A>C GRCh38
NC_000002.11:g.191879302A>C , CM000664.1:g.191879302A>C GRCh37
NC_000002.10:g.191587547A>C NCBI36
NG_008294.1:g.4675T>G , LRG_111:g.4675T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432058.1:c.-155-898T>G ENSP00000416019.1:n.-155-898T>G
ENST00000454414.5:c.-1-4572T>G ENSP00000411398.1:n.-1-4572T>G
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