Canonical Allele Identifier: CA10654619

Gene: IHH

Linked Data

• ClinVar Variation Id: 369330
• ClinVar RCV Id: RCV000358400 ; RCV001561538
• dbSNP Id: rs186760637
• gnomAD v2: 2-219925247-G-A
• gnomAD v3: 2-219060525-G-A
• gnomAD v4: 2-219060525-G-A
• MyVariant Identifiers: chr2:g.219925247G>A (hg19) ; chr2:g.219060525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060525G>A , CM000664.2:g.219060525G>A	GRCh38
NC_000002.11:g.219925247G>A , CM000664.1:g.219925247G>A	GRCh37
NC_000002.10:g.219633491G>A	NCBI36
NG_016741.1:g.4992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.-58C>T MANE Select	ENSP00000295731.5:n.-58C>T
NM_002181.4:c.-58C>T MANE Select	NP_002172.2:n.-58C>T