Canonical Allele Identifier: CA4179937

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 257890
• ClinVar RCV Id: RCV000248567 ; RCV000274005 ; RCV003437040
• dbSNP Id: rs199629774
• ExAC: 7:21657343 A / G
• gnomAD v2: 7-21657343-A-G
• gnomAD v3: 7-21617725-A-G
• gnomAD v4: 7-21617725-A-G
• MyVariant Identifiers: chr7:g.21657343A>G (hg19) ; chr7:g.21617725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21617725A>G , CM000669.2:g.21617725A>G	GRCh38
NC_000007.13:g.21657343A>G , CM000669.1:g.21657343A>G	GRCh37
NC_000007.12:g.21623868A>G	NCBI36
NG_012886.2:g.79511A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.4202A>G MANE Select	ENSP00000475939.1:p.Gln1401Arg
ENST00000328843.10:c.4217A>G	ENSP00000330671.7:p.Gln1406Arg
ENST00000409508.7:c.4202A>G	ENSP00000475939.1:p.Gln1401Arg
ENST00000620169.4:c.4217A>G	ENSP00000481693.1:p.Gln1406Arg
NM_001277115.1:c.4202A>G	NP_001264044.1:p.Gln1401Arg
NM_001277115.2:c.4202A>G MANE Select	NP_001264044.1:p.Gln1401Arg