Canonical Allele Identifier: CA10614368

Gene: IHH

Linked Data

• ClinVar Variation Id: 334429
• ClinVar RCV Id: RCV000365017 ; RCV001636935
• dbSNP Id: rs3099
• gnomAD v2: 2-219919754-G-C
• gnomAD v3: 2-219055032-G-C
• gnomAD v4: 2-219055032-G-C
• MyVariant Identifiers: chr2:g.219919754G>C (hg19) ; chr2:g.219055032G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219055032G>C , CM000664.2:g.219055032G>C	GRCh38
NC_000002.11:g.219919754G>C , CM000664.1:g.219919754G>C	GRCh37
NC_000002.10:g.219627998G>C	NCBI36
NG_016741.1:g.10485C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.*175C>G MANE Select	ENSP00000295731.5:n.*175C>G
ENST00000295731.6:c.1411C>G	ENSP00000295731.5:n.1411C>G
NM_002181.3:c.*175C>G	NP_002172.2:n.*175C>G
NM_002181.4:c.*175C>G MANE Select	NP_002172.2:n.*175C>G