Canonical Allele Identifier: CA4182610
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2732049
ClinVar RCV Id: RCV003539281
dbSNP Id: rs748038866
ExAC: 7:21893938 T / A
gnomAD v2: 7-21893938-T-A
gnomAD v4: 7-21854320-T-A
MyVariant Identifiers: chr7:g.21893938T>A (hg19) chr7:g.21854320T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21854320T>A , CM000669.2:g.21854320T>A GRCh38
NC_000007.13:g.21893938T>A , CM000669.1:g.21893938T>A GRCh37
NC_000007.12:g.21860463T>A NCBI36
NG_012886.2:g.316106T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.11067T>A MANE Select ENSP00000475939.1:p.Ile3689=
ENST00000328843.10:c.11088T>A ENSP00000330671.7:p.Ile3696=
ENST00000409508.7:c.11067T>A ENSP00000475939.1:p.Ile3689=
ENST00000421290.1:n.250T>A
ENST00000607413.5:n.330T>A
ENST00000620169.4:c.11088T>A ENSP00000481693.1:p.Ile3696=
NM_001277115.1:c.11067T>A NP_001264044.1:p.Ile3689=
NM_001277115.2:c.11067T>A MANE Select NP_001264044.1:p.Ile3689=
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