Canonical Allele Identifier: CA350637077

Gene: IHH

Linked Data

• dbSNP Id: rs1321173179
• gnomAD v2: 2-219925003-C-T
• gnomAD v4: 2-219060281-C-T
• MyVariant Identifiers: chr2:g.219925003C>T (hg19) ; chr2:g.219060281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060281C>T , CM000664.2:g.219060281C>T	GRCh38
NC_000002.11:g.219925003C>T , CM000664.1:g.219925003C>T	GRCh37
NC_000002.10:g.219633247C>T	NCBI36
NG_016741.1:g.5236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.187G>A MANE Select	ENSP00000295731.5:p.Ala63Thr
ENST00000295731.6:c.187G>A	ENSP00000295731.5:p.Ala63Thr
NM_002181.3:c.187G>A	NP_002172.2:p.Ala63Thr
NM_002181.4:c.187G>A MANE Select	NP_002172.2:p.Ala63Thr