Canonical Allele Identifier: CA1934539

Gene: IFIH1

Linked Data

• dbSNP Id: rs190032248
• ExAC: 2:163137984 G / A
• gnomAD v2: 2-163137984-G-A
• gnomAD v3: 2-162281474-G-A
• gnomAD v4: 2-162281474-G-A
• MyVariant Identifiers: chr2:g.163137984G>A (hg19) ; chr2:g.162281474G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281474G>A , CM000664.2:g.162281474G>A	GRCh38
NC_000002.11:g.163137984G>A , CM000664.1:g.163137984G>A	GRCh37
NC_000002.10:g.162846230G>A	NCBI36
NG_011495.1:g.42056C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*975C>T	ENSP00000513228.1:n.*975C>T
ENST00000648433.1:c.1378C>T	ENSP00000496816.1:p.His460Tyr
ENST00000649554.1:n.988C>T
ENST00000649979.2:c.1378C>T MANE Select	ENSP00000497271.1:p.His460Tyr
ENST00000679938.1:c.1066C>T	ENSP00000505518.1:p.His356Tyr
ENST00000263642.2:c.1378C>T	ENSP00000263642.2:p.His460Tyr
NM_022168.3:c.1378C>T	NP_071451.2:p.His460Tyr
XM_011511628.1:c.661C>T	XP_011509930.1:p.His221Tyr
XM_011511629.1:c.1378C>T	XP_011509931.1:p.His460Tyr
NM_022168.4:c.1378C>T MANE Select	NP_071451.2:p.His460Tyr