Canonical Allele Identifier: CA4182348
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 416427
ClinVar RCV Id: RCV001473638
dbSNP Id: rs573384750
ExAC: 7:21856131 C / A
gnomAD v2: 7-21856131-C-A
gnomAD v3: 7-21816513-C-A
gnomAD v4: 7-21816513-C-A
MyVariant Identifiers: chr7:g.21856131C>A (hg19) chr7:g.21816513C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816513C>A , CM000669.2:g.21816513C>A GRCh38
NC_000007.13:g.21856131C>A , CM000669.1:g.21856131C>A GRCh37
NC_000007.12:g.21822656C>A NCBI36
NG_012886.2:g.278299C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10379C>A MANE Select ENSP00000475939.1:p.Thr3460Lys
ENST00000328843.10:c.10400C>A ENSP00000330671.7:p.Thr3467Lys
ENST00000409508.7:c.10379C>A ENSP00000475939.1:p.Thr3460Lys
ENST00000620169.4:c.10400C>A ENSP00000481693.1:p.Thr3467Lys
NM_001277115.1:c.10379C>A NP_001264044.1:p.Thr3460Lys
NM_001277115.2:c.10379C>A MANE Select NP_001264044.1:p.Thr3460Lys
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