Canonical Allele Identifier: CA2607445925
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs2106310829
gnomAD v3: 2-219060511-G-A
gnomAD v4: 2-219060511-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060511G>A , CM000664.2:g.219060511G>A GRCh38
NC_000002.11:g.219925233G>A , CM000664.1:g.219925233G>A GRCh37
NC_000002.10:g.219633477G>A NCBI36
NG_016741.1:g.5006C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-44C>T MANE Select ENSP00000295731.5:n.-44C>T
NM_002181.3:c.-44C>T NP_002172.2:n.-44C>T
NM_002181.4:c.-44C>T MANE Select NP_002172.2:n.-44C>T
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