Canonical Allele Identifier: CA429535925
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163138886A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282376A>C , CM000664.2:g.162282376A>C GRCh38
NC_000002.11:g.163138886A>C , CM000664.1:g.163138886A>C GRCh37
NC_000002.10:g.162847132A>C NCBI36
NG_011495.1:g.41154T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*893T>G ENSP00000513228.1:n.*893T>G
ENST00000648433.1:c.1296T>G ENSP00000496816.1:p.Val432=
ENST00000649554.1:n.906T>G
ENST00000649979.2:c.1296T>G MANE Select ENSP00000497271.1:p.Val432=
ENST00000679938.1:c.984T>G ENSP00000505518.1:p.Val328=
ENST00000263642.2:c.1296T>G ENSP00000263642.2:p.Val432=
NM_022168.3:c.1296T>G NP_071451.2:p.Val432=
XM_011511628.1:c.579T>G XP_011509930.1:p.Val193=
XM_011511629.1:c.1296T>G XP_011509931.1:p.Val432=
NM_022168.4:c.1296T>G MANE Select NP_071451.2:p.Val432=