Canonical Allele Identifier: CA2435587

Gene: DNAH1

Linked Data

• ClinVar Variation Id: 478516
• ClinVar RCV Id: RCV000525282 ; RCV001255314 ; RCV001535571
• dbSNP Id: rs200158571
• ExAC: 3:52424975 C / G
• gnomAD v2: 3-52424975-C-G
• gnomAD v3: 3-52390959-C-G
• gnomAD v4: 3-52390959-C-G
• MyVariant Identifiers: chr3:g.52424975C>G (hg19) ; chr3:g.52390959C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52390959C>G , CM000665.2:g.52390959C>G	GRCh38
NC_000003.11:g.52424975C>G , CM000665.1:g.52424975C>G	GRCh37
NC_000003.10:g.52400015C>G	NCBI36
NG_052911.1:g.79641C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000420323.7:c.9646C>G MANE Select	ENSP00000401514.2:p.Leu3216Val
ENST00000420323.6:c.9646C>G	ENSP00000401514.2:p.Leu3216Val
ENST00000480649.1:c.80C>G
ENST00000486752.5:n.10103C>G
ENST00000488988.5:n.1432C>G
ENST00000490713.5:c.346C>G	ENSP00000419071.1:p.Leu116Val
NM_015512.4:c.9646C>G	NP_056327.4:p.Leu3216Val
XM_011533577.1:c.9715C>G	XP_011531879.1:p.Leu3239Val
XM_017006129.1:c.9715C>G	XP_016861618.1:p.Leu3239Val
XM_017006130.1:c.9646C>G	XP_016861619.1:p.Leu3216Val
XM_017006131.1:c.9589C>G	XP_016861620.1:p.Leu3197Val
XM_017006132.1:c.9715C>G	XP_016861621.1:p.Leu3239Val
XM_017006133.1:c.*132C>G	XP_016861622.1:n.*132C>G
XR_001740098.1:n.12864C>G
XR_001740099.1:n.12864C>G
NM_015512.5:c.9646C>G MANE Select	NP_056327.4:p.Leu3216Val