Canonical Allele Identifier: CA350635634
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219057630A>G , CM000664.2:g.219057630A>G GRCh38
NC_000002.11:g.219922352A>G , CM000664.1:g.219922352A>G GRCh37
NC_000002.10:g.219630596A>G NCBI36
NG_016741.1:g.7887T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.380T>C MANE Select ENSP00000295731.5:p.Leu127Pro
ENST00000295731.6:c.380T>C ENSP00000295731.5:p.Leu127Pro
NM_002181.3:c.380T>C NP_002172.2:p.Leu127Pro
NM_002181.4:c.380T>C MANE Select NP_002172.2:p.Leu127Pro