Canonical Allele Identifier: CA1042494199
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1948872973
gnomAD v3: 2-219060559-C-T
gnomAD v4: 2-219060559-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060559C>T , CM000664.2:g.219060559C>T GRCh38
NC_000002.11:g.219925281C>T , CM000664.1:g.219925281C>T GRCh37
NC_000002.10:g.219633525C>T NCBI36
NG_016741.1:g.4958G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-92G>A MANE Select ENSP00000295731.5:n.-92G>A
NM_002181.4:c.-92G>A MANE Select NP_002172.2:n.-92G>A
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