Canonical Allele Identifier: CA537507397

Gene: IFIH1

Linked Data

• dbSNP Id: rs1178747629
• gnomAD v2: 2-163123953-G-T
• MyVariant Identifiers: chr2:g.163123953G>T (hg19) ; chr2:g.162267443G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267443G>T , CM000664.2:g.162267443G>T	GRCh38
NC_000002.11:g.163123953G>T , CM000664.1:g.163123953G>T	GRCh37
NC_000002.10:g.162832199G>T	NCBI36
NG_011495.1:g.56087C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.*2495+36C>A	ENSP00000513228.1:n.*2495+36C>A
ENST00000648433.1:c.2781+36C>A	ENSP00000496816.1:n.2781+36C>A
ENST00000649426.1:n.659+36C>A
ENST00000649554.1:n.2508+36C>A
ENST00000649979.2:c.2898+36C>A MANE Select	ENSP00000497271.1:n.2898+36C>A
ENST00000679938.1:c.2586+36C>A	ENSP00000505518.1:n.2586+36C>A
ENST00000263642.2:c.2898+36C>A	ENSP00000263642.2:n.2898+36C>A
NM_022168.3:c.2898+36C>A	NP_071451.2:n.2898+36C>A
XM_011511628.1:c.2181+36C>A	XP_011509930.1:n.2181+36C>A
NM_022168.4:c.2898+36C>A MANE Select	NP_071451.2:n.2898+36C>A