Canonical Allele Identifier: CA1042494195

Gene: IHH

Linked Data

• dbSNP Id: rs1948872917
• gnomAD v3: 2-219060549-C-A
• gnomAD v4: 2-219060549-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060549C>A , CM000664.2:g.219060549C>A	GRCh38
NC_000002.11:g.219925271C>A , CM000664.1:g.219925271C>A	GRCh37
NC_000002.10:g.219633515C>A	NCBI36
NG_016741.1:g.4968G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.-82G>T MANE Select	ENSP00000295731.5:n.-82G>T
NM_002181.4:c.-82G>T MANE Select	NP_002172.2:n.-82G>T