Canonical Allele Identifier: CA348989942
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 665367
ClinVar RCV Id: RCV000823633 RCV003362984
dbSNP Id: rs1322389017
gnomAD v2: 2-163124056-T-A
gnomAD v3: 2-162267546-T-A
gnomAD v4: 2-162267546-T-A
MyVariant Identifiers: chr2:g.163124056T>A (hg19) chr2:g.162267546T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162267546T>A , CM000664.2:g.162267546T>A GRCh38
NC_000002.11:g.163124056T>A , CM000664.1:g.163124056T>A GRCh37
NC_000002.10:g.162832302T>A NCBI36
NG_011495.1:g.55984A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*2428A>T ENSP00000513228.1:n.*2428A>T
ENST00000648433.1:c.2714A>T ENSP00000496816.1:p.Asn905Ile
ENST00000649426.1:n.592A>T
ENST00000649554.1:n.2441A>T
ENST00000649979.2:c.2831A>T MANE Select ENSP00000497271.1:p.Asn944Ile
ENST00000679938.1:c.2519A>T ENSP00000505518.1:p.Asn840Ile
ENST00000263642.2:c.2831A>T ENSP00000263642.2:p.Asn944Ile
NM_022168.3:c.2831A>T NP_071451.2:p.Asn944Ile
XM_011511628.1:c.2114A>T XP_011509930.1:p.Asn705Ile
NM_022168.4:c.2831A>T MANE Select NP_071451.2:p.Asn944Ile
Search 100 bp 5'
Search 100 bp 3'