Canonical Allele Identifier: CA350637431
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060350G>C , CM000664.2:g.219060350G>C GRCh38
NC_000002.11:g.219925072G>C , CM000664.1:g.219925072G>C GRCh37
NC_000002.10:g.219633316G>C NCBI36
NG_016741.1:g.5167C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.118C>G MANE Select ENSP00000295731.5:p.Pro40Ala
ENST00000295731.6:c.118C>G ENSP00000295731.5:p.Pro40Ala
NM_002181.3:c.118C>G NP_002172.2:p.Pro40Ala
NM_002181.4:c.118C>G MANE Select NP_002172.2:p.Pro40Ala