Canonical Allele Identifier: CA4179424

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 970151
• ClinVar RCV Id: RCV001245671 ; RCV001732092
• dbSNP Id: rs543944909
• ExAC: 7:21639487 A / T
• gnomAD v2: 7-21639487-A-T
• gnomAD v3: 7-21599869-A-T
• gnomAD v4: 7-21599869-A-T
• COSMIC: COSM3025367 ; COSM4361350
• MyVariant Identifiers: chr7:g.21639487A>T (hg19) ; chr7:g.21599869A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21599869A>T , CM000669.2:g.21599869A>T	GRCh38
NC_000007.13:g.21639487A>T , CM000669.1:g.21639487A>T	GRCh37
NC_000007.12:g.21606012A>T	NCBI36
NG_012886.2:g.61655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.2750A>T MANE Select	ENSP00000475939.1:p.Glu917Val
ENST00000328843.10:c.2750A>T	ENSP00000330671.7:p.Glu917Val
ENST00000409508.7:c.2750A>T	ENSP00000475939.1:p.Glu917Val
ENST00000620169.4:c.2750A>T	ENSP00000481693.1:p.Glu917Val
NM_001277115.1:c.2750A>T	NP_001264044.1:p.Glu917Val
NM_001277115.2:c.2750A>T MANE Select	NP_001264044.1:p.Glu917Val