Canonical Allele Identifier: CA1934526
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2148801
ClinVar RCV Id: RCV003081243
dbSNP Id: rs753216541
ExAC: 2:163137913 C / G
gnomAD v2: 2-163137913-C-G
gnomAD v3: 2-162281403-C-G
gnomAD v4: 2-162281403-C-G
MyVariant Identifiers: chr2:g.163137913C>G (hg19) chr2:g.162281403C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162281403C>G , CM000664.2:g.162281403C>G GRCh38
NC_000002.11:g.163137913C>G , CM000664.1:g.163137913C>G GRCh37
NC_000002.10:g.162846159C>G NCBI36
NG_011495.1:g.42127G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*1046G>C ENSP00000513228.1:n.*1046G>C
ENST00000648433.1:c.1449G>C ENSP00000496816.1:p.Gln483His
ENST00000649554.1:n.1059G>C
ENST00000649979.2:c.1449G>C MANE Select ENSP00000497271.1:p.Gln483His
ENST00000679938.1:c.1137G>C ENSP00000505518.1:p.Gln379His
ENST00000263642.2:c.1449G>C ENSP00000263642.2:p.Gln483His
NM_022168.3:c.1449G>C NP_071451.2:p.Gln483His
XM_011511628.1:c.732G>C XP_011509930.1:p.Gln244His
XM_011511629.1:c.1449G>C XP_011509931.1:p.Gln483His
NM_022168.4:c.1449G>C MANE Select NP_071451.2:p.Gln483His
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