Canonical Allele Identifier: CA4179980
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2624323
ClinVar RCV Id: RCV004362508
dbSNP Id: rs778176102
ExAC: 7:21658719 T / A
gnomAD v2: 7-21658719-T-A
gnomAD v3: 7-21619101-T-A
gnomAD v4: 7-21619101-T-A
MyVariant Identifiers: chr7:g.21658719T>A (hg19) chr7:g.21619101T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619101T>A , CM000669.2:g.21619101T>A GRCh38
NC_000007.13:g.21658719T>A , CM000669.1:g.21658719T>A GRCh37
NC_000007.12:g.21625244T>A NCBI36
NG_012886.2:g.80887T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4256T>A MANE Select ENSP00000475939.1:p.Val1419Asp
ENST00000328843.10:c.4271T>A ENSP00000330671.7:p.Val1424Asp
ENST00000409508.7:c.4256T>A ENSP00000475939.1:p.Val1419Asp
ENST00000465593.1:n.282T>A
ENST00000620169.4:c.4271T>A ENSP00000481693.1:p.Val1424Asp
NM_001277115.1:c.4256T>A NP_001264044.1:p.Val1419Asp
NM_001277115.2:c.4256T>A MANE Select NP_001264044.1:p.Val1419Asp
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