Canonical Allele Identifier: CA429535678

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1619993
• ClinVar RCV Id: RCV002089220
• dbSNP Id: rs1411002338
• MyVariant Identifiers: chr2:g.163137916A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281406A>C , CM000664.2:g.162281406A>C	GRCh38
NC_000002.11:g.163137916A>C , CM000664.1:g.163137916A>C	GRCh37
NC_000002.10:g.162846162A>C	NCBI36
NG_011495.1:g.42124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*1043T>G	ENSP00000513228.1:n.*1043T>G
ENST00000648433.1:c.1446T>G	ENSP00000496816.1:p.Pro482=
ENST00000649554.1:n.1056T>G
ENST00000649979.2:c.1446T>G MANE Select	ENSP00000497271.1:p.Pro482=
ENST00000679938.1:c.1134T>G	ENSP00000505518.1:p.Pro378=
ENST00000263642.2:c.1446T>G	ENSP00000263642.2:p.Pro482=
NM_022168.3:c.1446T>G	NP_071451.2:p.Pro482=
XM_011511628.1:c.729T>G	XP_011509930.1:p.Pro243=
XM_011511629.1:c.1446T>G	XP_011509931.1:p.Pro482=
NM_022168.4:c.1446T>G MANE Select	NP_071451.2:p.Pro482=