Canonical Allele Identifier: CA348989424

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162267362-C-T
• MyVariant Identifiers: chr2:g.163123872C>T (hg19) ; chr2:g.162267362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162267362C>T , CM000664.2:g.162267362C>T	GRCh38
NC_000002.11:g.163123872C>T , CM000664.1:g.163123872C>T	GRCh37
NC_000002.10:g.162832118C>T	NCBI36
NG_011495.1:g.56168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*2513G>A	ENSP00000513228.1:n.*2513G>A
ENST00000648433.1:c.2799G>A	ENSP00000496816.1:p.Met933Ile
ENST00000649426.1:n.677G>A
ENST00000649554.1:n.2526G>A
ENST00000649979.2:c.2916G>A MANE Select	ENSP00000497271.1:p.Met972Ile
ENST00000679938.1:c.2604G>A	ENSP00000505518.1:p.Met868Ile
ENST00000263642.2:c.2916G>A	ENSP00000263642.2:p.Met972Ile
NM_022168.3:c.2916G>A	NP_071451.2:p.Met972Ile
XM_011511628.1:c.2199G>A	XP_011509930.1:p.Met733Ile
NM_022168.4:c.2916G>A MANE Select	NP_071451.2:p.Met972Ile