Canonical Allele Identifier: CA454139620
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1157999
ClinVar RCV Id: RCV001501236
dbSNP Id: rs757013900
gnomAD v4: 7-21635991-C-A
MyVariant Identifiers: chr7:g.21675609C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21635991C>A , CM000669.2:g.21635991C>A GRCh38
NC_000007.13:g.21675609C>A , CM000669.1:g.21675609C>A GRCh37
NC_000007.12:g.21642134C>A NCBI36
NG_012886.2:g.97777C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.4621C>A MANE Select ENSP00000475939.1:p.Arg1541=
ENST00000328843.10:c.4636C>A ENSP00000330671.7:p.Arg1546=
ENST00000409508.7:c.4621C>A ENSP00000475939.1:p.Arg1541=
ENST00000465593.1:n.647C>A
ENST00000620169.4:c.4636C>A ENSP00000481693.1:p.Arg1546=
NM_001277115.1:c.4621C>A NP_001264044.1:p.Arg1541=
NM_001277115.2:c.4621C>A MANE Select NP_001264044.1:p.Arg1541=
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