Canonical Allele Identifier: CA762423256

Gene: STAT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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