Canonical Allele Identifier: CA350637360
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060337A>C , CM000664.2:g.219060337A>C GRCh38
NC_000002.11:g.219925059A>C , CM000664.1:g.219925059A>C GRCh37
NC_000002.10:g.219633303A>C NCBI36
NG_016741.1:g.5180T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.131T>G MANE Select ENSP00000295731.5:p.Leu44Arg
ENST00000295731.6:c.131T>G ENSP00000295731.5:p.Leu44Arg
NM_002181.3:c.131T>G NP_002172.2:p.Leu44Arg
NM_002181.4:c.131T>G MANE Select NP_002172.2:p.Leu44Arg