Canonical Allele Identifier: CA454138887
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2892614
ClinVar RCV Id: RCV003650204
gnomAD v4: 7-21543350-C-A
MyVariant Identifiers: chr7:g.21582968C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543350C>A , CM000669.2:g.21543350C>A GRCh38
NC_000007.13:g.21582968C>A , CM000669.1:g.21582968C>A GRCh37
NC_000007.12:g.21549493C>A NCBI36
NG_012886.2:g.5136C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.105C>A MANE Select ENSP00000475939.1:p.Leu35=
ENST00000328843.10:c.105C>A ENSP00000330671.7:p.Leu35=
ENST00000409508.7:c.105C>A ENSP00000475939.1:p.Leu35=
ENST00000620169.4:c.105C>A ENSP00000481693.1:p.Leu35=
NM_001277115.1:c.105C>A NP_001264044.1:p.Leu35=
NM_001277115.2:c.105C>A MANE Select NP_001264044.1:p.Leu35=
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