Canonical Allele Identifier: CA182904
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 178733
dbSNP Id: rs34879202
gnomAD v2: 7-21882209-G-A
gnomAD v3: 7-21842591-G-A
gnomAD v4: 7-21842591-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21842591G>A , CM000669.2:g.21842591G>A GRCh38
NC_000007.13:g.21882209G>A , CM000669.1:g.21882209G>A GRCh37
NC_000007.12:g.21848734G>A NCBI36
NG_012886.2:g.304377G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.10739G>A MANE Select ENSP00000475939.1:p.Arg3580His
ENST00000328843.10:c.10760G>A ENSP00000330671.7:p.Arg3587His
ENST00000409508.7:c.10739G>A ENSP00000475939.1:p.Arg3580His
ENST00000620169.4:c.10760G>A ENSP00000481693.1:p.Arg3587His
NM_001277115.1:c.10739G>A NP_001264044.1:p.Arg3580His
NM_001277115.2:c.10739G>A MANE Select NP_001264044.1:p.Arg3580His