Canonical Allele Identifier: CA59657927
Gene: IFIH1 HGNC NCBI

Linked Data

dbSNP Id: rs1012633245
gnomAD v3: 2-162275814-A-G
gnomAD v4: 2-162275814-A-G
MyVariant Identifiers: chr2:g.163132324A>G (hg19) chr2:g.162275814A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162275814A>G , CM000664.2:g.162275814A>G GRCh38
NC_000002.11:g.163132324A>G , CM000664.1:g.163132324A>G GRCh37
NC_000002.10:g.162840570A>G NCBI36
NG_011495.1:g.47716T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*1901+873T>C ENSP00000513228.1:n.*1901+873T>C
ENST00000648433.1:c.2187+873T>C ENSP00000496816.1:n.2187+873T>C
ENST00000649554.1:n.1914+873T>C
ENST00000649979.2:c.2304+873T>C MANE Select ENSP00000497271.1:n.2304+873T>C
ENST00000679938.1:c.1992+873T>C ENSP00000505518.1:n.1992+873T>C
ENST00000263642.2:c.2304+873T>C ENSP00000263642.2:n.2304+873T>C
NM_022168.3:c.2304+873T>C NP_071451.2:n.2304+873T>C
XM_011511628.1:c.1587+873T>C XP_011509930.1:n.1587+873T>C
NM_022168.4:c.2304+873T>C MANE Select NP_071451.2:n.2304+873T>C
Search 100 bp 5'
Search 100 bp 3'