Canonical Allele Identifier: CA429536169
Gene: IFIH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.163139078T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282568T>G , CM000664.2:g.162282568T>G GRCh38
NC_000002.11:g.163139078T>G , CM000664.1:g.163139078T>G GRCh37
NC_000002.10:g.162847324T>G NCBI36
NG_011495.1:g.40962A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*701A>C ENSP00000513228.1:n.*701A>C
ENST00000648433.1:c.1104A>C ENSP00000496816.1:p.Leu368=
ENST00000649554.1:n.714A>C
ENST00000649979.2:c.1104A>C MANE Select ENSP00000497271.1:p.Leu368=
ENST00000679938.1:c.792A>C ENSP00000505518.1:p.Leu264=
ENST00000263642.2:c.1104A>C ENSP00000263642.2:p.Leu368=
NM_022168.3:c.1104A>C NP_071451.2:p.Leu368=
XM_011511628.1:c.387A>C XP_011509930.1:p.Leu129=
XM_011511629.1:c.1104A>C XP_011509931.1:p.Leu368=
NM_022168.4:c.1104A>C MANE Select NP_071451.2:p.Leu368=