Canonical Allele Identifier: CA1934015
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 541786
ClinVar RCV Id: RCV000652109
dbSNP Id: rs372007025

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162267341C>T , CM000664.2:g.162267341C>T GRCh38
NC_000002.11:g.163123851C>T , CM000664.1:g.163123851C>T GRCh37
NC_000002.10:g.162832097C>T NCBI36
NG_011495.1:g.56189G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*2534G>A ENSP00000513228.1:n.*2534G>A
ENST00000648433.1:c.2820G>A ENSP00000496816.1:p.Leu940=
ENST00000649426.1:n.698G>A
ENST00000649554.1:n.2547G>A
ENST00000649979.2:c.2937G>A MANE Select ENSP00000497271.1:p.Leu979=
ENST00000679938.1:c.2625G>A ENSP00000505518.1:p.Leu875=
ENST00000263642.2:c.2937G>A ENSP00000263642.2:p.Leu979=
NM_022168.3:c.2937G>A NP_071451.2:p.Leu979=
XM_011511628.1:c.2220G>A XP_011509930.1:p.Leu740=
NM_022168.4:c.2937G>A MANE Select NP_071451.2:p.Leu979=