Canonical Allele Identifier: CA433761178

Gene: DNAH1

Linked Data

• ClinVar Variation Id: 2935044
• ClinVar RCV Id: RCV003790698
• dbSNP Id: rs1702488759
• gnomAD v3: 3-52353606-G-A
• gnomAD v4: 3-52353606-G-A
• MyVariant Identifiers: chr3:g.52387622G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52353606G>A , CM000665.2:g.52353606G>A	GRCh38
NC_000003.11:g.52387622G>A , CM000665.1:g.52387622G>A	GRCh37
NC_000003.10:g.52362662G>A	NCBI36
NG_052911.1:g.42288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.3453G>A MANE Select	ENSP00000401514.2:p.Val1151=
ENST00000420323.6:c.3453G>A	ENSP00000401514.2:p.Val1151=
ENST00000486752.5:n.3714G>A
ENST00000497875.1:n.3618G>A
NM_015512.4:c.3453G>A	NP_056327.4:p.Val1151=
XM_011533577.1:c.3453G>A	XP_011531879.1:p.Val1151=
XM_017006129.1:c.3453G>A	XP_016861618.1:p.Val1151=
XM_017006130.1:c.3453G>A	XP_016861619.1:p.Val1151=
XM_017006131.1:c.3453G>A	XP_016861620.1:p.Val1151=
XM_017006132.1:c.3453G>A	XP_016861621.1:p.Val1151=
XM_017006133.1:c.3453G>A	XP_016861622.1:p.Val1151=
XR_001740098.1:n.6602G>A
XR_001740099.1:n.6602G>A
NM_015512.5:c.3453G>A MANE Select	NP_056327.4:p.Val1151=