Canonical Allele Identifier: CA572919016
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs900045964
gnomAD v2: 7-21856029-C-A
gnomAD v4: 7-21816411-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816411C>A , CM000669.2:g.21816411C>A GRCh38
NC_000007.13:g.21856029C>A , CM000669.1:g.21856029C>A GRCh37
NC_000007.12:g.21822554C>A NCBI36
NG_012886.2:g.278197C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10333-56C>A MANE Select ENSP00000475939.1:n.10333-56C>A
ENST00000328843.10:c.10354-56C>A ENSP00000330671.7:n.10354-56C>A
ENST00000409508.7:c.10333-56C>A ENSP00000475939.1:n.10333-56C>A
ENST00000620169.4:c.10354-56C>A ENSP00000481693.1:n.10354-56C>A
NM_001277115.1:c.10333-56C>A NP_001264044.1:n.10333-56C>A
NM_001277115.2:c.10333-56C>A MANE Select NP_001264044.1:n.10333-56C>A