Canonical Allele Identifier: CA429724853

Gene: IFIH1

Linked Data

• ClinVar Variation Id: 1669969
• ClinVar RCV Id: RCV002201148
• dbSNP Id: rs2105237912
• gnomAD v4: 2-162317939-G-A
• MyVariant Identifiers: chr2:g.163174449G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162317939G>A , CM000664.2:g.162317939G>A	GRCh38
NC_000002.11:g.163174449G>A , CM000664.1:g.163174449G>A	GRCh37
NC_000002.10:g.162882695G>A	NCBI36
NG_011495.1:g.5591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697291.1:c.369C>T	ENSP00000513228.1:p.Pro123=
ENST00000648433.1:c.369C>T	ENSP00000496816.1:p.Pro123=
ENST00000649979.2:c.369C>T MANE Select	ENSP00000497271.1:p.Pro123=
ENST00000679938.1:c.204C>T	ENSP00000505518.1:p.Pro68=
ENST00000263642.2:c.369C>T	ENSP00000263642.2:p.Pro123=
ENST00000421365.2:c.369C>T	ENSP00000408450.2:p.Pro123=
NM_022168.3:c.369C>T	NP_071451.2:p.Pro123=
XM_011511629.1:c.369C>T	XP_011509931.1:p.Pro123=
NM_022168.4:c.369C>T MANE Select	NP_071451.2:p.Pro123=