Canonical Allele Identifier: CA246500
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 198018
dbSNP Id: rs141979671
gnomAD v2: 7-21826284-G-A
gnomAD v3: 7-21786666-G-A
gnomAD v4: 7-21786666-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21786666G>A , CM000669.2:g.21786666G>A GRCh38
NC_000007.13:g.21826284G>A , CM000669.1:g.21826284G>A GRCh37
NC_000007.12:g.21792809G>A NCBI36
NG_012886.2:g.248452G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.9640G>A MANE Select ENSP00000475939.1:p.Ala3214Thr
ENST00000328843.10:c.9661G>A ENSP00000330671.7:p.Ala3221Thr
ENST00000409508.7:c.9640G>A ENSP00000475939.1:p.Ala3214Thr
ENST00000620169.4:c.9661G>A ENSP00000481693.1:p.Ala3221Thr
NM_001277115.1:c.9640G>A NP_001264044.1:p.Ala3214Thr
NM_001277115.2:c.9640G>A MANE Select NP_001264044.1:p.Ala3214Thr