Canonical Allele Identifier: CA366963947
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2609591
ClinVar RCV Id: RCV004357667
dbSNP Id: rs1783890260
MyVariant Identifiers: chr7:g.21920366T>G (hg19) chr7:g.21880748T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880748T>G , CM000669.2:g.21880748T>G GRCh38
NC_000007.13:g.21920366T>G , CM000669.1:g.21920366T>G GRCh37
NC_000007.12:g.21886891T>G NCBI36
NG_012886.2:g.342534T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12242T>G MANE Select ENSP00000475939.1:p.Leu4081Arg
ENST00000328843.10:c.12263T>G ENSP00000330671.7:p.Leu4088Arg
ENST00000409508.7:c.12242T>G ENSP00000475939.1:p.Leu4081Arg
ENST00000620169.4:c.12263T>G ENSP00000481693.1:p.Leu4088Arg
NM_001277115.1:c.12242T>G NP_001264044.1:p.Leu4081Arg
NM_001277115.2:c.12242T>G MANE Select NP_001264044.1:p.Leu4081Arg
Search 100 bp 5'
Search 100 bp 3'