Canonical Allele Identifier: CA155077799
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1056150664
gnomAD v2: 7-21745370-G-A
gnomAD v3: 7-21705752-G-A
gnomAD v4: 7-21705752-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21705752G>A , CM000669.2:g.21705752G>A GRCh38
NC_000007.13:g.21745370G>A , CM000669.1:g.21745370G>A GRCh37
NC_000007.12:g.21711895G>A NCBI36
NG_012886.2:g.167538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.6546+215G>A MANE Select ENSP00000475939.1:n.6546+215G>A
ENST00000328843.10:c.6567+215G>A ENSP00000330671.7:n.6567+215G>A
ENST00000409508.7:c.6546+215G>A ENSP00000475939.1:n.6546+215G>A
ENST00000620169.4:c.6567+215G>A ENSP00000481693.1:n.6567+215G>A
NM_001277115.1:c.6546+215G>A NP_001264044.1:n.6546+215G>A
NM_001277115.2:c.6546+215G>A MANE Select NP_001264044.1:n.6546+215G>A