Canonical Allele Identifier: CA350637369
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060338G>C , CM000664.2:g.219060338G>C GRCh38
NC_000002.11:g.219925060G>C , CM000664.1:g.219925060G>C GRCh37
NC_000002.10:g.219633304G>C NCBI36
NG_016741.1:g.5179C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.130C>G MANE Select ENSP00000295731.5:p.Leu44Val
ENST00000295731.6:c.130C>G ENSP00000295731.5:p.Leu44Val
NM_002181.3:c.130C>G NP_002172.2:p.Leu44Val
NM_002181.4:c.130C>G MANE Select NP_002172.2:p.Leu44Val