Canonical Allele Identifier: CA350637796

Gene: IHH

Linked Data

• dbSNP Id: rs1249255858
• gnomAD v2: 2-219925176-C-A
• gnomAD v4: 2-219060454-C-A
• MyVariant Identifiers: chr2:g.219925176C>A (hg19) ; chr2:g.219060454C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060454C>A , CM000664.2:g.219060454C>A	GRCh38
NC_000002.11:g.219925176C>A , CM000664.1:g.219925176C>A	GRCh37
NC_000002.10:g.219633420C>A	NCBI36
NG_016741.1:g.5063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.14G>T MANE Select	ENSP00000295731.5:p.Arg5Leu
ENST00000295731.6:c.14G>T	ENSP00000295731.5:p.Arg5Leu
NM_002181.3:c.14G>T	NP_002172.2:p.Arg5Leu
NM_002181.4:c.14G>T MANE Select	NP_002172.2:p.Arg5Leu