Canonical Allele Identifier: CA1042494189

Gene: IHH

Linked Data

• dbSNP Id: rs1948872841
• gnomAD v3: 2-219060539-G-C
• gnomAD v4: 2-219060539-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060539G>C , CM000664.2:g.219060539G>C	GRCh38
NC_000002.11:g.219925261G>C , CM000664.1:g.219925261G>C	GRCh37
NC_000002.10:g.219633505G>C	NCBI36
NG_016741.1:g.4978C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.-72C>G MANE Select	ENSP00000295731.5:n.-72C>G
NM_002181.4:c.-72C>G MANE Select	NP_002172.2:n.-72C>G