Canonical Allele Identifier: CA2681979590
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21600214-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21600214C>T , CM000669.2:g.21600214C>T GRCh38
NC_000007.13:g.21639832C>T , CM000669.1:g.21639832C>T GRCh37
NC_000007.12:g.21606357C>T NCBI36
NG_012886.2:g.62000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.3000+95C>T MANE Select ENSP00000475939.1:n.3000+95C>T
ENST00000328843.10:c.3000+95C>T ENSP00000330671.7:n.3000+95C>T
ENST00000409508.7:c.3000+95C>T ENSP00000475939.1:n.3000+95C>T
ENST00000620169.4:c.3000+95C>T ENSP00000481693.1:n.3000+95C>T
NM_001277115.1:c.3000+95C>T NP_001264044.1:n.3000+95C>T
NM_001277115.2:c.3000+95C>T MANE Select NP_001264044.1:n.3000+95C>T
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