Canonical Allele Identifier: CA119983
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 8875
dbSNP Id: rs267606873

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219057627C>T , CM000664.2:g.219057627C>T GRCh38
NC_000002.11:g.219922349C>T , CM000664.1:g.219922349C>T GRCh37
NC_000002.10:g.219630593C>T NCBI36
NG_016741.1:g.7890G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.383G>A MANE Select ENSP00000295731.5:p.Arg128Gln
ENST00000295731.6:c.383G>A ENSP00000295731.5:p.Arg128Gln
NM_002181.3:c.383G>A NP_002172.2:p.Arg128Gln
NM_002181.4:c.383G>A MANE Select NP_002172.2:p.Arg128Gln