Canonical Allele Identifier: CA11237130

Gene: STAT1

Linked Data

• dbSNP Id: rs10208033
• gnomAD v2: 2-191879417-T-C
• gnomAD v3: 2-191014691-T-C
• gnomAD v4: 2-191014691-T-C
• MyVariant Identifiers: chr2:g.191879417T>C (hg19) ; chr2:g.191014691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.191014691T>C , CM000664.2:g.191014691T>C	GRCh38
NC_000002.11:g.191879417T>C , CM000664.1:g.191879417T>C	GRCh37
NC_000002.10:g.191587662T>C	NCBI36
NG_008294.1:g.4560A>G , LRG_111:g.4560A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432058.1:c.-155-1013A>G	ENSP00000416019.1:n.-155-1013A>G
ENST00000454414.5:c.-1-4687A>G	ENSP00000411398.1:n.-1-4687A>G