Canonical Allele Identifier: CA4179406
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2800332
ClinVar RCV Id: RCV003647481
dbSNP Id: rs572033374
gnomAD v2: 7-21639416-G-A
gnomAD v3: 7-21599798-G-A
gnomAD v4: 7-21599798-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599798G>A , CM000669.2:g.21599798G>A GRCh38
NC_000007.13:g.21639416G>A , CM000669.1:g.21639416G>A GRCh37
NC_000007.12:g.21605941G>A NCBI36
NG_012886.2:g.61584G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2679G>A MANE Select ENSP00000475939.1:p.Lys893=
ENST00000328843.10:c.2679G>A ENSP00000330671.7:p.Lys893=
ENST00000409508.7:c.2679G>A ENSP00000475939.1:p.Lys893=
ENST00000620169.4:c.2679G>A ENSP00000481693.1:p.Lys893=
NM_001277115.1:c.2679G>A NP_001264044.1:p.Lys893=
NM_001277115.2:c.2679G>A MANE Select NP_001264044.1:p.Lys893=