Canonical Allele Identifier: CA348989459

Gene: IFIH1

Linked Data

• dbSNP Id: rs1344990810
• gnomAD v2: 2-163123880-T-A
• gnomAD v4: 2-162267370-T-A
• MyVariant Identifiers: chr2:g.163123880T>A (hg19) ; chr2:g.162267370T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267370T>A , CM000664.2:g.162267370T>A	GRCh38
NC_000002.11:g.163123880T>A , CM000664.1:g.163123880T>A	GRCh37
NC_000002.10:g.162832126T>A	NCBI36
NG_011495.1:g.56160A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2505A>T	ENSP00000513228.1:n.*2505A>T
ENST00000648433.1:c.2791A>T	ENSP00000496816.1:p.Thr931Ser
ENST00000649426.1:n.669A>T
ENST00000649554.1:n.2518A>T
ENST00000649979.2:c.2908A>T MANE Select	ENSP00000497271.1:p.Thr970Ser
ENST00000679938.1:c.2596A>T	ENSP00000505518.1:p.Thr866Ser
ENST00000263642.2:c.2908A>T	ENSP00000263642.2:p.Thr970Ser
NM_022168.3:c.2908A>T	NP_071451.2:p.Thr970Ser
XM_011511628.1:c.2191A>T	XP_011509930.1:p.Thr731Ser
NM_022168.4:c.2908A>T MANE Select	NP_071451.2:p.Thr970Ser