Canonical Allele Identifier: CA1040536300
Gene: STAT1 HGNC NCBI

Linked Data

dbSNP Id: rs1695548530
gnomAD v3: 2-191015696-G-A
gnomAD v4: 2-191015696-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.191015696G>A , CM000664.2:g.191015696G>A GRCh38
NC_000002.11:g.191880422G>A , CM000664.1:g.191880422G>A GRCh37
NC_000002.10:g.191588667G>A NCBI36
NG_008294.1:g.3555C>T , LRG_111:g.3555C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432058.1:c.-155-2018C>T ENSP00000416019.1:n.-155-2018C>T
ENST00000454414.5:c.-2+4504C>T ENSP00000411398.1:n.-2+4504C>T
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