Canonical Allele Identifier: CA350637678
Gene: IHH HGNC NCBI

Linked Data

gnomAD v4: 2-219060417-C-G
MyVariant Identifiers: chr2:g.219925139C>G (hg19) chr2:g.219060417C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060417C>G , CM000664.2:g.219060417C>G GRCh38
NC_000002.11:g.219925139C>G , CM000664.1:g.219925139C>G GRCh37
NC_000002.10:g.219633383C>G NCBI36
NG_016741.1:g.5100G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.51G>C MANE Select ENSP00000295731.5:p.Leu17Phe
ENST00000295731.6:c.51G>C ENSP00000295731.5:p.Leu17Phe
NM_002181.3:c.51G>C NP_002172.2:p.Leu17Phe
NM_002181.4:c.51G>C MANE Select NP_002172.2:p.Leu17Phe
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