Canonical Allele Identifier: CA350637621

Gene: IHH

Linked Data

• dbSNP Id: rs1559180668
• gnomAD v3: 2-219060398-C-T
• gnomAD v4: 2-219060398-C-T
• MyVariant Identifiers: chr2:g.219925120C>T (hg19) ; chr2:g.219060398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060398C>T , CM000664.2:g.219060398C>T	GRCh38
NC_000002.11:g.219925120C>T , CM000664.1:g.219925120C>T	GRCh37
NC_000002.10:g.219633364C>T	NCBI36
NG_016741.1:g.5119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.70G>A MANE Select	ENSP00000295731.5:p.Ala24Thr
ENST00000295731.6:c.70G>A	ENSP00000295731.5:p.Ala24Thr
NM_002181.3:c.70G>A	NP_002172.2:p.Ala24Thr
NM_002181.4:c.70G>A MANE Select	NP_002172.2:p.Ala24Thr