Canonical Allele Identifier: CA4179993

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359625
• ClinVar RCV Id: RCV000312768 ; RCV002225606
• dbSNP Id: rs183489539
• ExAC: 7:21658769 C / T
• gnomAD v2: 7-21658769-C-T
• gnomAD v3: 7-21619151-C-T
• gnomAD v4: 7-21619151-C-T
• COSMIC: COSM1622696 ; COSM3663091
• MyVariant Identifiers: chr7:g.21658769C>T (hg19) ; chr7:g.21619151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21619151C>T , CM000669.2:g.21619151C>T	GRCh38
NC_000007.13:g.21658769C>T , CM000669.1:g.21658769C>T	GRCh37
NC_000007.12:g.21625294C>T	NCBI36
NG_012886.2:g.80937C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4306C>T MANE Select	ENSP00000475939.1:p.Arg1436Trp
ENST00000328843.10:c.4321C>T	ENSP00000330671.7:p.Arg1441Trp
ENST00000409508.7:c.4306C>T	ENSP00000475939.1:p.Arg1436Trp
ENST00000465593.1:n.332C>T
ENST00000620169.4:c.4321C>T	ENSP00000481693.1:p.Arg1441Trp
NM_001277115.1:c.4306C>T	NP_001264044.1:p.Arg1436Trp
NM_001277115.2:c.4306C>T MANE Select	NP_001264044.1:p.Arg1436Trp