Canonical Allele Identifier: CA119974

Gene: IHH

Linked Data

• ClinVar Variation Id: 8867
• ClinVar RCV Id: RCV000009417
• dbSNP Id: rs121917853
• MyVariant Identifiers: chr2:g.219922341C>T (hg19) ; chr2:g.219057619C>T (hg38)
• PubMed: PMID:11455389 ; PMID:19277064

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219057619C>T , CM000664.2:g.219057619C>T	GRCh38
NC_000002.11:g.219922341C>T , CM000664.1:g.219922341C>T	GRCh37
NC_000002.10:g.219630585C>T	NCBI36
NG_016741.1:g.7898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.391G>A MANE Select	ENSP00000295731.5:p.Glu131Lys
ENST00000295731.6:c.391G>A	ENSP00000295731.5:p.Glu131Lys
NM_002181.3:c.391G>A	NP_002172.2:p.Glu131Lys
NM_002181.4:c.391G>A MANE Select	NP_002172.2:p.Glu131Lys