Canonical Allele Identifier: CA453963464
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2893333
ClinVar RCV Id: RCV003650216
dbSNP Id: rs1785006462
MyVariant Identifiers: chr7:g.21639521C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599903C>T , CM000669.2:g.21599903C>T GRCh38
NC_000007.13:g.21639521C>T , CM000669.1:g.21639521C>T GRCh37
NC_000007.12:g.21606046C>T NCBI36
NG_012886.2:g.61689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2784C>T MANE Select ENSP00000475939.1:p.Asp928=
ENST00000328843.10:c.2784C>T ENSP00000330671.7:p.Asp928=
ENST00000409508.7:c.2784C>T ENSP00000475939.1:p.Asp928=
ENST00000620169.4:c.2784C>T ENSP00000481693.1:p.Asp928=
NM_001277115.1:c.2784C>T NP_001264044.1:p.Asp928=
NM_001277115.2:c.2784C>T MANE Select NP_001264044.1:p.Asp928=
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