Canonical Allele Identifier: CA1042494006
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1948867095
gnomAD v3: 2-219060088-T-G
gnomAD v4: 2-219060088-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060088T>G , CM000664.2:g.219060088T>G GRCh38
NC_000002.11:g.219924810T>G , CM000664.1:g.219924810T>G GRCh37
NC_000002.10:g.219633054T>G NCBI36
NG_016741.1:g.5429A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.315+65A>C MANE Select ENSP00000295731.5:n.315+65A>C
ENST00000295731.6:c.315+65A>C ENSP00000295731.5:n.315+65A>C
NM_002181.3:c.315+65A>C NP_002172.2:n.315+65A>C
NM_002181.4:c.315+65A>C MANE Select NP_002172.2:n.315+65A>C
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