Canonical Allele Identifier: CA350637329
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060329G>C , CM000664.2:g.219060329G>C GRCh38
NC_000002.11:g.219925051G>C , CM000664.1:g.219925051G>C GRCh37
NC_000002.10:g.219633295G>C NCBI36
NG_016741.1:g.5188C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.139C>G MANE Select ENSP00000295731.5:p.Leu47Val
ENST00000295731.6:c.139C>G ENSP00000295731.5:p.Leu47Val
NM_002181.3:c.139C>G NP_002172.2:p.Leu47Val
NM_002181.4:c.139C>G MANE Select NP_002172.2:p.Leu47Val