Canonical Allele Identifier: CA2661689113
Gene: IFIH1 HGNC NCBI

Linked Data

gnomAD v4: 2-162282274-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282274A>G , CM000664.2:g.162282274A>G GRCh38
NC_000002.11:g.163138784A>G , CM000664.1:g.163138784A>G GRCh37
NC_000002.10:g.162847030A>G NCBI36
NG_011495.1:g.41256T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*903+92T>C ENSP00000513228.1:n.*903+92T>C
ENST00000648433.1:c.1306+92T>C ENSP00000496816.1:n.1306+92T>C
ENST00000649554.1:n.916+92T>C
ENST00000649979.2:c.1306+92T>C MANE Select ENSP00000497271.1:n.1306+92T>C
ENST00000679938.1:c.994+92T>C ENSP00000505518.1:n.994+92T>C
ENST00000263642.2:c.1306+92T>C ENSP00000263642.2:n.1306+92T>C
NM_022168.3:c.1306+92T>C NP_071451.2:n.1306+92T>C
XM_011511628.1:c.589+92T>C XP_011509930.1:n.589+92T>C
XM_011511629.1:c.1306+92T>C XP_011509931.1:n.1306+92T>C
NM_022168.4:c.1306+92T>C MANE Select NP_071451.2:n.1306+92T>C
Search 100 bp 5'
Search 100 bp 3'