Canonical Allele Identifier: CA349002446

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162281465-T-G
• MyVariant Identifiers: chr2:g.163137975T>G (hg19) ; chr2:g.162281465T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281465T>G , CM000664.2:g.162281465T>G	GRCh38
NC_000002.11:g.163137975T>G , CM000664.1:g.163137975T>G	GRCh37
NC_000002.10:g.162846221T>G	NCBI36
NG_011495.1:g.42065A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*984A>C	ENSP00000513228.1:n.*984A>C
ENST00000648433.1:c.1387A>C	ENSP00000496816.1:p.Met463Leu
ENST00000649554.1:n.997A>C
ENST00000649979.2:c.1387A>C MANE Select	ENSP00000497271.1:p.Met463Leu
ENST00000679938.1:c.1075A>C	ENSP00000505518.1:p.Met359Leu
ENST00000263642.2:c.1387A>C	ENSP00000263642.2:p.Met463Leu
NM_022168.3:c.1387A>C	NP_071451.2:p.Met463Leu
XM_011511628.1:c.670A>C	XP_011509930.1:p.Met224Leu
XM_011511629.1:c.1387A>C	XP_011509931.1:p.Met463Leu
NM_022168.4:c.1387A>C MANE Select	NP_071451.2:p.Met463Leu