Canonical Allele Identifier: CA62694663
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs13027915
gnomAD v2: 2-191879243-T-C
gnomAD v3: 2-191014517-T-C
gnomAD v4: 2-191014517-T-C
MyVariant Identifiers: chr2:g.191879243T>C (hg19) chr2:g.191014517T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191014517T>C , CM000664.2:g.191014517T>C GRCh38
NC_000002.11:g.191879243T>C , CM000664.1:g.191879243T>C GRCh37
NC_000002.10:g.191587488T>C NCBI36
NG_008294.1:g.4734A>G , LRG_111:g.4734A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432058.1:c.-155-839A>G ENSP00000416019.1:n.-155-839A>G
ENST00000454414.5:c.-1-4513A>G ENSP00000411398.1:n.-1-4513A>G
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