Canonical Allele Identifier: CA4181452

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 525225
• ClinVar RCV Id: RCV000629274 ; RCV002492937 ; RCV003437333 ; RCV004544818
• dbSNP Id: rs183682756
• ExAC: 7:21781702 A / G
• gnomAD v2: 7-21781702-A-G
• gnomAD v3: 7-21742084-A-G
• gnomAD v4: 7-21742084-A-G
• MyVariant Identifiers: chr7:g.21781702A>G (hg19) ; chr7:g.21742084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21742084A>G , CM000669.2:g.21742084A>G	GRCh38
NC_000007.13:g.21781702A>G , CM000669.1:g.21781702A>G	GRCh37
NC_000007.12:g.21748227A>G	NCBI36
NG_012886.2:g.203870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8072A>G MANE Select	ENSP00000475939.1:p.Gln2691Arg
ENST00000328843.10:c.8093A>G	ENSP00000330671.7:p.Gln2698Arg
ENST00000409508.7:c.8072A>G	ENSP00000475939.1:p.Gln2691Arg
ENST00000605912.1:c.474+2411A>G	ENSP00000476068.1:n.474+2411A>G
ENST00000620169.4:c.8093A>G	ENSP00000481693.1:p.Gln2698Arg
NM_001277115.1:c.8072A>G	NP_001264044.1:p.Gln2691Arg
NM_001277115.2:c.8072A>G MANE Select	NP_001264044.1:p.Gln2691Arg