Canonical Allele Identifier: CA4180694

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454692
• ClinVar RCV Id: RCV000559628 ; RCV002461276
• dbSNP Id: rs767595964
• ExAC: 7:21737781 C / T
• gnomAD v2: 7-21737781-C-T
• gnomAD v3: 7-21698163-C-T
• gnomAD v4: 7-21698163-C-T
• COSMIC: COSM5641973 ; COSM5641974
• MyVariant Identifiers: chr7:g.21737781C>T (hg19) ; chr7:g.21698163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21698163C>T , CM000669.2:g.21698163C>T	GRCh38
NC_000007.13:g.21737781C>T , CM000669.1:g.21737781C>T	GRCh37
NC_000007.12:g.21704306C>T	NCBI36
NG_012886.2:g.159949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6130C>T MANE Select	ENSP00000475939.1:p.Arg2044Ter
ENST00000328843.10:c.6151C>T	ENSP00000330671.7:p.Arg2051Ter
ENST00000409508.7:c.6130C>T	ENSP00000475939.1:p.Arg2044Ter
ENST00000620169.4:c.6151C>T	ENSP00000481693.1:p.Arg2051Ter
NM_001277115.1:c.6130C>T	NP_001264044.1:p.Arg2044Ter
NM_001277115.2:c.6130C>T MANE Select	NP_001264044.1:p.Arg2044Ter