Canonical Allele Identifier: CA4180738

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 228333
• ClinVar RCV Id: RCV000223514 ; RCV001782703 ; RCV004541339 ; RCV001554971
• dbSNP Id: rs200693106
• ExAC: 7:21742391 C / T
• gnomAD v2: 7-21742391-C-T
• gnomAD v3: 7-21702773-C-T
• gnomAD v4: 7-21702773-C-T
• COSMIC: COSM218919 ; COSM3394671
• MyVariant Identifiers: chr7:g.21742391C>T (hg19) ; chr7:g.21702773C>T (hg38)
• PubMed: PMID:22184204 ; PMID:25802884

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21702773C>T , CM000669.2:g.21702773C>T	GRCh38
NC_000007.13:g.21742391C>T , CM000669.1:g.21742391C>T	GRCh37
NC_000007.12:g.21708916C>T	NCBI36
NG_012886.2:g.164559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6244C>T MANE Select	ENSP00000475939.1:p.Arg2082Ter
ENST00000328843.10:c.6265C>T	ENSP00000330671.7:p.Arg2089Ter
ENST00000409508.7:c.6244C>T	ENSP00000475939.1:p.Arg2082Ter
ENST00000465129.1:n.64C>T
ENST00000620169.4:c.6265C>T	ENSP00000481693.1:p.Arg2089Ter
NM_001277115.1:c.6244C>T	NP_001264044.1:p.Arg2082Ter
NM_001277115.2:c.6244C>T MANE Select	NP_001264044.1:p.Arg2082Ter