Canonical Allele Identifier: CA429528238
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163124061T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162267551T>C , CM000664.2:g.162267551T>C GRCh38
NC_000002.11:g.163124061T>C , CM000664.1:g.163124061T>C GRCh37
NC_000002.10:g.162832307T>C NCBI36
NG_011495.1:g.55979A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*2423A>G ENSP00000513228.1:n.*2423A>G
ENST00000648433.1:c.2709A>G ENSP00000496816.1:p.Arg903=
ENST00000649426.1:n.587A>G
ENST00000649554.1:n.2436A>G
ENST00000649979.2:c.2826A>G MANE Select ENSP00000497271.1:p.Arg942=
ENST00000679938.1:c.2514A>G ENSP00000505518.1:p.Arg838=
ENST00000263642.2:c.2826A>G ENSP00000263642.2:p.Arg942=
NM_022168.3:c.2826A>G NP_071451.2:p.Arg942=
XM_011511628.1:c.2109A>G XP_011509930.1:p.Arg703=
NM_022168.4:c.2826A>G MANE Select NP_071451.2:p.Arg942=