Canonical Allele Identifier: CA10614228

Gene: IHH

Linked Data

• ClinVar Variation Id: 334447
• ClinVar RCV Id: RCV000360600
• dbSNP Id: rs886055651
• gnomAD v2: 2-219925203-G-A
• gnomAD v3: 2-219060481-G-A
• gnomAD v4: 2-219060481-G-A
• MyVariant Identifiers: chr2:g.219925203G>A (hg19) ; chr2:g.219060481G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060481G>A , CM000664.2:g.219060481G>A	GRCh38
NC_000002.11:g.219925203G>A , CM000664.1:g.219925203G>A	GRCh37
NC_000002.10:g.219633447G>A	NCBI36
NG_016741.1:g.5036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.-14C>T MANE Select	ENSP00000295731.5:n.-14C>T
NM_002181.3:c.-14C>T	NP_002172.2:n.-14C>T
NM_002181.4:c.-14C>T MANE Select	NP_002172.2:n.-14C>T