Canonical Allele Identifier: CA4180354

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 359634
• ClinVar RCV Id: RCV000361690 ; RCV001764327
• dbSNP Id: rs200295318
• ExAC: 7:21698639 A / G
• gnomAD v2: 7-21698639-A-G
• gnomAD v3: 7-21659021-A-G
• gnomAD v4: 7-21659021-A-G
• MyVariant Identifiers: chr7:g.21698639A>G (hg19) ; chr7:g.21659021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21659021A>G , CM000669.2:g.21659021A>G	GRCh38
NC_000007.13:g.21698639A>G , CM000669.1:g.21698639A>G	GRCh37
NC_000007.12:g.21665164A>G	NCBI36
NG_012886.2:g.120807A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.5318A>G MANE Select	ENSP00000475939.1:p.His1773Arg
ENST00000328843.10:c.5333A>G	ENSP00000330671.7:p.His1778Arg
ENST00000409508.7:c.5318A>G	ENSP00000475939.1:p.His1773Arg
ENST00000620169.4:c.5333A>G	ENSP00000481693.1:p.His1778Arg
NM_001277115.1:c.5318A>G	NP_001264044.1:p.His1773Arg
NM_001277115.2:c.5318A>G MANE Select	NP_001264044.1:p.His1773Arg