Canonical Allele Identifier: CA260569
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 36981
dbSNP Id: rs368260932
gnomAD v2: 7-21789320-C-T
gnomAD v3: 7-21749702-C-T
gnomAD v4: 7-21749702-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21749702C>T , CM000669.2:g.21749702C>T GRCh38
NC_000007.13:g.21789320C>T , CM000669.1:g.21789320C>T GRCh37
NC_000007.12:g.21755845C>T NCBI36
NG_012886.2:g.211488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8698C>T MANE Select ENSP00000475939.1:p.Arg2900Ter
ENST00000328843.10:c.8719C>T ENSP00000330671.7:p.Arg2907Ter
ENST00000409508.7:c.8698C>T ENSP00000475939.1:p.Arg2900Ter
ENST00000620169.4:c.8719C>T ENSP00000481693.1:p.Arg2907Ter
NM_001277115.1:c.8698C>T NP_001264044.1:p.Arg2900Ter
NM_001277115.2:c.8698C>T MANE Select NP_001264044.1:p.Arg2900Ter