Canonical Allele Identifier: CA2434755

Gene: DNAH1

Linked Data

• ClinVar Variation Id: 478485
• ClinVar RCV Id: RCV000530950 ; RCV001473698
• dbSNP Id: rs202011102
• ExAC: 3:52409379 A / C
• gnomAD v2: 3-52409379-A-C
• gnomAD v3: 3-52375363-A-C
• gnomAD v4: 3-52375363-A-C
• MyVariant Identifiers: chr3:g.52409379A>C (hg19) ; chr3:g.52375363A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52375363A>C , CM000665.2:g.52375363A>C	GRCh38
NC_000003.11:g.52409379A>C , CM000665.1:g.52409379A>C	GRCh37
NC_000003.10:g.52384419A>C	NCBI36
NG_052911.1:g.64045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.7109A>C MANE Select	ENSP00000401514.2:p.Asp2370Ala
ENST00000420323.6:c.7109A>C	ENSP00000401514.2:p.Asp2370Ala
ENST00000486752.5:n.7370A>C
NM_015512.4:c.7109A>C	NP_056327.4:p.Asp2370Ala
XM_011533577.1:c.7178A>C	XP_011531879.1:p.Asp2393Ala
XM_017006129.1:c.7178A>C	XP_016861618.1:p.Asp2393Ala
XM_017006130.1:c.7109A>C	XP_016861619.1:p.Asp2370Ala
XM_017006131.1:c.7178A>C	XP_016861620.1:p.Asp2393Ala
XM_017006132.1:c.7178A>C	XP_016861621.1:p.Asp2393Ala
XM_017006133.1:c.7178A>C	XP_016861622.1:p.Asp2393Ala
XR_001740098.1:n.10327A>C
XR_001740099.1:n.10327A>C
NM_015512.5:c.7109A>C MANE Select	NP_056327.4:p.Asp2370Ala