Canonical Allele Identifier: CA350636729
Gene: IHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060192C>A , CM000664.2:g.219060192C>A GRCh38
NC_000002.11:g.219924914C>A , CM000664.1:g.219924914C>A GRCh37
NC_000002.10:g.219633158C>A NCBI36
NG_016741.1:g.5325G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.276G>T MANE Select ENSP00000295731.5:p.Lys92Asn
ENST00000295731.6:c.276G>T ENSP00000295731.5:p.Lys92Asn
NM_002181.3:c.276G>T NP_002172.2:p.Lys92Asn
NM_002181.4:c.276G>T MANE Select NP_002172.2:p.Lys92Asn