Canonical Allele Identifier: CA349002608

Gene: IFIH1

Linked Data

• MyVariant Identifiers: chr2:g.163138047G>A (hg19) ; chr2:g.162281537G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281537G>A , CM000664.2:g.162281537G>A	GRCh38
NC_000002.11:g.163138047G>A , CM000664.1:g.163138047G>A	GRCh37
NC_000002.10:g.162846293G>A	NCBI36
NG_011495.1:g.41993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*912C>T	ENSP00000513228.1:n.*912C>T
ENST00000648433.1:c.1315C>T	ENSP00000496816.1:p.Leu439Phe
ENST00000649554.1:n.925C>T
ENST00000649979.2:c.1315C>T MANE Select	ENSP00000497271.1:p.Leu439Phe
ENST00000679938.1:c.1003C>T	ENSP00000505518.1:p.Leu335Phe
ENST00000263642.2:c.1315C>T	ENSP00000263642.2:p.Leu439Phe
NM_022168.3:c.1315C>T	NP_071451.2:p.Leu439Phe
XM_011511628.1:c.598C>T	XP_011509930.1:p.Leu200Phe
XM_011511629.1:c.1315C>T	XP_011509931.1:p.Leu439Phe
NM_022168.4:c.1315C>T MANE Select	NP_071451.2:p.Leu439Phe