Canonical Allele Identifier: CA366944422
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2167102
ClinVar RCV Id: RCV003080417
dbSNP Id: rs1450132388
gnomAD v3: 7-21599911-T-A
gnomAD v4: 7-21599911-T-A
MyVariant Identifiers: chr7:g.21639529T>A (hg19) chr7:g.21599911T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599911T>A , CM000669.2:g.21599911T>A GRCh38
NC_000007.13:g.21639529T>A , CM000669.1:g.21639529T>A GRCh37
NC_000007.12:g.21606054T>A NCBI36
NG_012886.2:g.61697T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2792T>A MANE Select ENSP00000475939.1:p.Leu931Gln
ENST00000328843.10:c.2792T>A ENSP00000330671.7:p.Leu931Gln
ENST00000409508.7:c.2792T>A ENSP00000475939.1:p.Leu931Gln
ENST00000620169.4:c.2792T>A ENSP00000481693.1:p.Leu931Gln
NM_001277115.1:c.2792T>A NP_001264044.1:p.Leu931Gln
NM_001277115.2:c.2792T>A MANE Select NP_001264044.1:p.Leu931Gln
Search 100 bp 5'
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