Canonical Allele Identifier: CA1934039

Gene: IFIH1

Linked Data

• dbSNP Id: rs749437569
• ExAC: 2:163123971 C / T
• gnomAD v2: 2-163123971-C-T
• gnomAD v3: 2-162267461-C-T
• gnomAD v4: 2-162267461-C-T
• MyVariant Identifiers: chr2:g.163123971C>T (hg19) ; chr2:g.162267461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267461C>T , CM000664.2:g.162267461C>T	GRCh38
NC_000002.11:g.163123971C>T , CM000664.1:g.163123971C>T	GRCh37
NC_000002.10:g.162832217C>T	NCBI36
NG_011495.1:g.56069G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2495+18G>A	ENSP00000513228.1:n.*2495+18G>A
ENST00000648433.1:c.2781+18G>A	ENSP00000496816.1:n.2781+18G>A
ENST00000649426.1:n.659+18G>A
ENST00000649554.1:n.2508+18G>A
ENST00000649979.2:c.2898+18G>A MANE Select	ENSP00000497271.1:n.2898+18G>A
ENST00000679938.1:c.2586+18G>A	ENSP00000505518.1:n.2586+18G>A
ENST00000263642.2:c.2898+18G>A	ENSP00000263642.2:n.2898+18G>A
NM_022168.3:c.2898+18G>A	NP_071451.2:n.2898+18G>A
XM_011511628.1:c.2181+18G>A	XP_011509930.1:n.2181+18G>A
NM_022168.4:c.2898+18G>A MANE Select	NP_071451.2:n.2898+18G>A