Canonical Allele Identifier: CA2116771
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs749484451

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060350G>T , CM000664.2:g.219060350G>T GRCh38
NC_000002.11:g.219925072G>T , CM000664.1:g.219925072G>T GRCh37
NC_000002.10:g.219633316G>T NCBI36
NG_016741.1:g.5167C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.118C>A MANE Select ENSP00000295731.5:p.Pro40Thr
ENST00000295731.6:c.118C>A ENSP00000295731.5:p.Pro40Thr
NM_002181.3:c.118C>A NP_002172.2:p.Pro40Thr
NM_002181.4:c.118C>A MANE Select NP_002172.2:p.Pro40Thr