Canonical Allele Identifier: CA349013724

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163174550G>C (hg19) ; chr2:g.162318040G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162318040G>C , CM000664.2:g.162318040G>C	GRCh38
NC_000002.11:g.163174550G>C , CM000664.1:g.163174550G>C	GRCh37
NC_000002.10:g.162882796G>C	NCBI36
NG_011495.1:g.5490C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.268C>G	ENSP00000513228.1:p.Leu90Val
ENST00000648433.1:c.268C>G	ENSP00000496816.1:p.Leu90Val
ENST00000649979.2:c.268C>G MANE Select	ENSP00000497271.1:p.Leu90Val
ENST00000679938.1:c.103C>G	ENSP00000505518.1:p.Leu35Val
ENST00000263642.2:c.268C>G	ENSP00000263642.2:p.Leu90Val
ENST00000421365.2:c.268C>G	ENSP00000408450.2:p.Leu90Val
NM_022168.3:c.268C>G	NP_071451.2:p.Leu90Val
XM_011511629.1:c.268C>G	XP_011509931.1:p.Leu90Val
NM_022168.4:c.268C>G MANE Select	NP_071451.2:p.Leu90Val