Canonical Allele Identifier: CA348989416

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163123871C>G (hg19) ; chr2:g.162267361C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267361C>G , CM000664.2:g.162267361C>G	GRCh38
NC_000002.11:g.163123871C>G , CM000664.1:g.163123871C>G	GRCh37
NC_000002.10:g.162832117C>G	NCBI36
NG_011495.1:g.56169G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2514G>C	ENSP00000513228.1:n.*2514G>C
ENST00000648433.1:c.2800G>C	ENSP00000496816.1:p.Val934Leu
ENST00000649426.1:n.678G>C
ENST00000649554.1:n.2527G>C
ENST00000649979.2:c.2917G>C MANE Select	ENSP00000497271.1:p.Val973Leu
ENST00000679938.1:c.2605G>C	ENSP00000505518.1:p.Val869Leu
ENST00000263642.2:c.2917G>C	ENSP00000263642.2:p.Val973Leu
NM_022168.3:c.2917G>C	NP_071451.2:p.Val973Leu
XM_011511628.1:c.2200G>C	XP_011509930.1:p.Val734Leu
NM_022168.4:c.2917G>C MANE Select	NP_071451.2:p.Val973Leu