Canonical Allele Identifier: CA350636863
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060228C>G , CM000664.2:g.219060228C>G GRCh38
NC_000002.11:g.219924950C>G , CM000664.1:g.219924950C>G GRCh37
NC_000002.10:g.219633194C>G NCBI36
NG_016741.1:g.5289G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.240G>C MANE Select ENSP00000295731.5:p.Glu80Asp
ENST00000295731.6:c.240G>C ENSP00000295731.5:p.Glu80Asp
NM_002181.3:c.240G>C NP_002172.2:p.Glu80Asp
NM_002181.4:c.240G>C MANE Select NP_002172.2:p.Glu80Asp