Canonical Allele Identifier: CA4180319

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 525302
• ClinVar RCV Id: RCV000629355
• dbSNP Id: rs531475386
• ExAC: 7:21698464 C / T
• gnomAD v2: 7-21698464-C-T
• gnomAD v3: 7-21658846-C-T
• gnomAD v4: 7-21658846-C-T
• COSMIC: COSM302076 ; COSM4361425
• MyVariant Identifiers: chr7:g.21698464C>T (hg19) ; chr7:g.21658846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21658846C>T , CM000669.2:g.21658846C>T	GRCh38
NC_000007.13:g.21698464C>T , CM000669.1:g.21698464C>T	GRCh37
NC_000007.12:g.21664989C>T	NCBI36
NG_012886.2:g.120632C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5143C>T MANE Select	ENSP00000475939.1:p.Arg1715Cys
ENST00000328843.10:c.5158C>T	ENSP00000330671.7:p.Arg1720Cys
ENST00000409508.7:c.5143C>T	ENSP00000475939.1:p.Arg1715Cys
ENST00000620169.4:c.5158C>T	ENSP00000481693.1:p.Arg1720Cys
NM_001277115.1:c.5143C>T	NP_001264044.1:p.Arg1715Cys
NM_001277115.2:c.5143C>T MANE Select	NP_001264044.1:p.Arg1715Cys