Canonical Allele Identifier: CA538477285

Gene: STAT1

Linked Data

• dbSNP Id: rs1364625201
• gnomAD v2: 2-191879422-C-G
• gnomAD v3: 2-191014696-C-G
• gnomAD v4: 2-191014696-C-G
• MyVariant Identifiers: chr2:g.191879422C>G (hg19) ; chr2:g.191014696C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.191014696C>G , CM000664.2:g.191014696C>G	GRCh38
NC_000002.11:g.191879422C>G , CM000664.1:g.191879422C>G	GRCh37
NC_000002.10:g.191587667C>G	NCBI36
NG_008294.1:g.4555G>C , LRG_111:g.4555G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432058.1:c.-155-1018G>C	ENSP00000416019.1:n.-155-1018G>C
ENST00000454414.5:c.-1-4692G>C	ENSP00000411398.1:n.-1-4692G>C