Canonical Allele Identifier: CA4179424
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 970151
dbSNP Id: rs543944909
gnomAD v2: 7-21639487-A-T
gnomAD v3: 7-21599869-A-T
gnomAD v4: 7-21599869-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599869A>T , CM000669.2:g.21599869A>T GRCh38
NC_000007.13:g.21639487A>T , CM000669.1:g.21639487A>T GRCh37
NC_000007.12:g.21606012A>T NCBI36
NG_012886.2:g.61655A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2750A>T MANE Select ENSP00000475939.1:p.Glu917Val
ENST00000328843.10:c.2750A>T ENSP00000330671.7:p.Glu917Val
ENST00000409508.7:c.2750A>T ENSP00000475939.1:p.Glu917Val
ENST00000620169.4:c.2750A>T ENSP00000481693.1:p.Glu917Val
NM_001277115.1:c.2750A>T NP_001264044.1:p.Glu917Val
NM_001277115.2:c.2750A>T MANE Select NP_001264044.1:p.Glu917Val