Canonical Allele Identifier: CA538477276
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1433508655
gnomAD v2: 2-191879385-T-G
MyVariant Identifiers: chr2:g.191879385T>G (hg19) chr2:g.191014659T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191014659T>G , CM000664.2:g.191014659T>G GRCh38
NC_000002.11:g.191879385T>G , CM000664.1:g.191879385T>G GRCh37
NC_000002.10:g.191587630T>G NCBI36
NG_008294.1:g.4592A>C , LRG_111:g.4592A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432058.1:c.-155-981A>C ENSP00000416019.1:n.-155-981A>C
ENST00000454414.5:c.-1-4655A>C ENSP00000411398.1:n.-1-4655A>C
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