Canonical Allele Identifier: CA2681990795
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697217
ClinVar RCV Id: RCV003536130
gnomAD v4: 7-21854305-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21854305C>T , CM000669.2:g.21854305C>T GRCh38
NC_000007.13:g.21893923C>T , CM000669.1:g.21893923C>T GRCh37
NC_000007.12:g.21860448C>T NCBI36
NG_012886.2:g.316091C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.11062-10C>T MANE Select ENSP00000475939.1:n.11062-10C>T
ENST00000328843.10:c.11083-10C>T ENSP00000330671.7:n.11083-10C>T
ENST00000409508.7:c.11062-10C>T ENSP00000475939.1:n.11062-10C>T
ENST00000421290.1:n.245-10C>T
ENST00000607413.5:n.325-10C>T
ENST00000620169.4:c.11083-10C>T ENSP00000481693.1:n.11083-10C>T
NM_001277115.1:c.11062-10C>T NP_001264044.1:n.11062-10C>T
NM_001277115.2:c.11062-10C>T MANE Select NP_001264044.1:n.11062-10C>T
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