Canonical Allele Identifier: CA2433120

Gene: DNAH1

Linked Data

• ClinVar Variation Id: 478421
• ClinVar RCV Id: RCV001591314
• dbSNP Id: rs61734653
• ExAC: 3:52381865 A / G
• gnomAD v2: 3-52381865-A-G
• gnomAD v3: 3-52347849-A-G
• gnomAD v4: 3-52347849-A-G
• MyVariant Identifiers: chr3:g.52381865A>G (hg19) ; chr3:g.52347849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52347849A>G , CM000665.2:g.52347849A>G	GRCh38
NC_000003.11:g.52381865A>G , CM000665.1:g.52381865A>G	GRCh37
NC_000003.10:g.52356905A>G	NCBI36
NG_052911.1:g.36531A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420323.7:c.1981A>G MANE Select	ENSP00000401514.2:p.Met661Val
ENST00000420323.6:c.1981A>G	ENSP00000401514.2:p.Met661Val
ENST00000486752.5:n.2242A>G
ENST00000497875.1:n.2146A>G
NM_015512.4:c.1981A>G	NP_056327.4:p.Met661Val
XM_011533577.1:c.1981A>G	XP_011531879.1:p.Met661Val
XM_017006129.1:c.1981A>G	XP_016861618.1:p.Met661Val
XM_017006130.1:c.1981A>G	XP_016861619.1:p.Met661Val
XM_017006131.1:c.1981A>G	XP_016861620.1:p.Met661Val
XM_017006132.1:c.1981A>G	XP_016861621.1:p.Met661Val
XM_017006133.1:c.1981A>G	XP_016861622.1:p.Met661Val
XR_001740098.1:n.5130A>G
XR_001740099.1:n.5130A>G
NM_015512.5:c.1981A>G MANE Select	NP_056327.4:p.Met661Val