Canonical Allele Identifier: CA349003255

Gene: IFIH1

Linked Data

• dbSNP Id: rs140977021
• gnomAD v3: 2-162282575-A-G
• gnomAD v4: 2-162282575-A-G
• MyVariant Identifiers: chr2:g.163139085A>G (hg19) ; chr2:g.162282575A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282575A>G , CM000664.2:g.162282575A>G	GRCh38
NC_000002.11:g.163139085A>G , CM000664.1:g.163139085A>G	GRCh37
NC_000002.10:g.162847331A>G	NCBI36
NG_011495.1:g.40955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*694T>C	ENSP00000513228.1:n.*694T>C
ENST00000648433.1:c.1097T>C	ENSP00000496816.1:p.Val366Ala
ENST00000649554.1:n.707T>C
ENST00000649979.2:c.1097T>C MANE Select	ENSP00000497271.1:p.Val366Ala
ENST00000679938.1:c.785T>C	ENSP00000505518.1:p.Val262Ala
ENST00000263642.2:c.1097T>C	ENSP00000263642.2:p.Val366Ala
NM_022168.3:c.1097T>C	NP_071451.2:p.Val366Ala
XM_011511628.1:c.380T>C	XP_011509930.1:p.Val127Ala
XM_011511629.1:c.1097T>C	XP_011509931.1:p.Val366Ala
NM_022168.4:c.1097T>C MANE Select	NP_071451.2:p.Val366Ala