Canonical Allele Identifier: CA350636707
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060186C>G , CM000664.2:g.219060186C>G GRCh38
NC_000002.11:g.219924908C>G , CM000664.1:g.219924908C>G GRCh37
NC_000002.10:g.219633152C>G NCBI36
NG_016741.1:g.5331G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.282G>C MANE Select ENSP00000295731.5:p.Glu94Asp
ENST00000295731.6:c.282G>C ENSP00000295731.5:p.Glu94Asp
NM_002181.3:c.282G>C NP_002172.2:p.Glu94Asp
NM_002181.4:c.282G>C MANE Select NP_002172.2:p.Glu94Asp