Canonical Allele Identifier: CA2578843793
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21864477-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21864477C>T , CM000669.2:g.21864477C>T GRCh38
NC_000007.13:g.21904095C>T , CM000669.1:g.21904095C>T GRCh37
NC_000007.12:g.21870620C>T NCBI36
NG_012886.2:g.326263C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11374-58C>T MANE Select ENSP00000475939.1:n.11374-58C>T
ENST00000328843.10:c.11395-58C>T ENSP00000330671.7:n.11395-58C>T
ENST00000409508.7:c.11374-58C>T ENSP00000475939.1:n.11374-58C>T
ENST00000620169.4:c.11395-58C>T ENSP00000481693.1:n.11395-58C>T
NM_001277115.1:c.11374-58C>T NP_001264044.1:n.11374-58C>T
NM_001277115.2:c.11374-58C>T MANE Select NP_001264044.1:n.11374-58C>T
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