Canonical Allele Identifier: CA4181771
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 359661
ClinVar RCV Id: RCV000289296 RCV002272215 RCV003437126
dbSNP Id: rs374033085
ExAC: 7:21789930 C / A
gnomAD v2: 7-21789930-C-A
gnomAD v3: 7-21750312-C-A
gnomAD v4: 7-21750312-C-A
COSMIC: COSM461614
MyVariant Identifiers: chr7:g.21789930C>A (hg19) chr7:g.21750312C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21750312C>A , CM000669.2:g.21750312C>A GRCh38
NC_000007.13:g.21789930C>A , CM000669.1:g.21789930C>A GRCh37
NC_000007.12:g.21756455C>A NCBI36
NG_012886.2:g.212098C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8888C>A MANE Select ENSP00000475939.1:p.Ser2963Tyr
ENST00000328843.10:c.8909C>A ENSP00000330671.7:p.Ser2970Tyr
ENST00000409508.7:c.8888C>A ENSP00000475939.1:p.Ser2963Tyr
ENST00000620169.4:c.8909C>A ENSP00000481693.1:p.Ser2970Tyr
NM_001277115.1:c.8888C>A NP_001264044.1:p.Ser2963Tyr
NM_001277115.2:c.8888C>A MANE Select NP_001264044.1:p.Ser2963Tyr
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