Canonical Allele Identifier: CA1934042
Gene: IFIH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2080470
ClinVar RCV Id: RCV002983112
dbSNP Id: rs559069227
ExAC: 2:163123986 C / T
gnomAD v2: 2-163123986-C-T
gnomAD v3: 2-162267476-C-T
gnomAD v4: 2-162267476-C-T
MyVariant Identifiers: chr2:g.163123986C>T (hg19) chr2:g.162267476C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162267476C>T , CM000664.2:g.162267476C>T GRCh38
NC_000002.11:g.163123986C>T , CM000664.1:g.163123986C>T GRCh37
NC_000002.10:g.162832232C>T NCBI36
NG_011495.1:g.56054G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697291.1:c.*2495+3G>A ENSP00000513228.1:n.*2495+3G>A
ENST00000648433.1:c.2781+3G>A ENSP00000496816.1:n.2781+3G>A
ENST00000649426.1:n.659+3G>A
ENST00000649554.1:n.2508+3G>A
ENST00000649979.2:c.2898+3G>A MANE Select ENSP00000497271.1:n.2898+3G>A
ENST00000679938.1:c.2586+3G>A ENSP00000505518.1:n.2586+3G>A
ENST00000263642.2:c.2898+3G>A ENSP00000263642.2:n.2898+3G>A
NM_022168.3:c.2898+3G>A NP_071451.2:n.2898+3G>A
XM_011511628.1:c.2181+3G>A XP_011509930.1:n.2181+3G>A
NM_022168.4:c.2898+3G>A MANE Select NP_071451.2:n.2898+3G>A
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