Canonical Allele Identifier: CA1329042513
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1948866983
gnomAD v4: 2-219060081-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060081C>T , CM000664.2:g.219060081C>T GRCh38
NC_000002.11:g.219924803C>T , CM000664.1:g.219924803C>T GRCh37
NC_000002.10:g.219633047C>T NCBI36
NG_016741.1:g.5436G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.315+72G>A MANE Select ENSP00000295731.5:n.315+72G>A
ENST00000295731.6:c.315+72G>A ENSP00000295731.5:n.315+72G>A
NM_002181.3:c.315+72G>A NP_002172.2:n.315+72G>A
NM_002181.4:c.315+72G>A MANE Select NP_002172.2:n.315+72G>A
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