Canonical Allele Identifier: CA1042493987
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1948866904
gnomAD v3: 2-219060072-A-C
gnomAD v4: 2-219060072-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060072A>C , CM000664.2:g.219060072A>C GRCh38
NC_000002.11:g.219924794A>C , CM000664.1:g.219924794A>C GRCh37
NC_000002.10:g.219633038A>C NCBI36
NG_016741.1:g.5445T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.315+81T>G MANE Select ENSP00000295731.5:n.315+81T>G
ENST00000295731.6:c.315+81T>G ENSP00000295731.5:n.315+81T>G
NM_002181.3:c.315+81T>G NP_002172.2:n.315+81T>G
NM_002181.4:c.315+81T>G MANE Select NP_002172.2:n.315+81T>G
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