Canonical Allele Identifier: CA2434199

Gene: DNAH1

Linked Data

• ClinVar Variation Id: 478460
• ClinVar RCV Id: RCV000546198 ; RCV004024446
• dbSNP Id: rs200793269
• ExAC: 3:52398913 A / G
• gnomAD v2: 3-52398913-A-G
• gnomAD v3: 3-52364897-A-G
• gnomAD v4: 3-52364897-A-G
• COSMIC: COSM2853053 ; COSM2853054
• MyVariant Identifiers: chr3:g.52398913A>G (hg19) ; chr3:g.52364897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52364897A>G , CM000665.2:g.52364897A>G	GRCh38
NC_000003.11:g.52398913A>G , CM000665.1:g.52398913A>G	GRCh37
NC_000003.10:g.52373953A>G	NCBI36
NG_052911.1:g.53579A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.5396A>G MANE Select	ENSP00000401514.2:p.Lys1799Arg
ENST00000420323.6:c.5396A>G	ENSP00000401514.2:p.Lys1799Arg
ENST00000486752.5:n.5657A>G
NM_015512.4:c.5396A>G	NP_056327.4:p.Lys1799Arg
XM_011533577.1:c.5396A>G	XP_011531879.1:p.Lys1799Arg
XM_017006129.1:c.5396A>G	XP_016861618.1:p.Lys1799Arg
XM_017006130.1:c.5396A>G	XP_016861619.1:p.Lys1799Arg
XM_017006131.1:c.5396A>G	XP_016861620.1:p.Lys1799Arg
XM_017006132.1:c.5396A>G	XP_016861621.1:p.Lys1799Arg
XM_017006133.1:c.5396A>G	XP_016861622.1:p.Lys1799Arg
XR_001740098.1:n.8545A>G
XR_001740099.1:n.8545A>G
NM_015512.5:c.5396A>G MANE Select	NP_056327.4:p.Lys1799Arg