Canonical Allele Identifier: CA346955
Gene: DNAH1 HGNC NCBI
ClinVar RCV:
RCV000190948
RCV000495957
RCV003765209
ClinVar Variation:
209005
dbSNP:
544674332
gnomAD v2:
3:52387629 A / C
gnomAD v3:
3:52353613 A / C
gnomAD v4:
chr3-52353613-A-C
Joint Max Group AF 0.00005807 (MID)
Exomes Max Group AF 0.00006101 (MID)
MyVariant.info:
GRCh38 chr3:g.52353613A>C
GRCh37 chr3:g.52387629A>C
Revel Score:
ENST00000420323 (MANE Select) 0.755
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52353613A>C , CM000665.2:g.52353613A>C GRCh38
NC_000003.11:g.52387629A>C , CM000665.1:g.52387629A>C GRCh37
NC_000003.10:g.52362669A>C NCBI36
NG_052911.1:g.42295A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420323.7:c.3460A>C MANE Select ENSP00000401514.2:p.Lys1154Gln
ENST00000420323.6:c.3460A>C ENSP00000401514.2:p.Lys1154Gln
ENST00000486752.5:n.3721A>C
ENST00000497875.1:n.3625A>C
NM_015512.4:c.3460A>C NP_056327.4:p.Lys1154Gln
XM_011533577.1:c.3460A>C XP_011531879.1:p.Lys1154Gln
XM_017006129.1:c.3460A>C XP_016861618.1:p.Lys1154Gln
XM_017006130.1:c.3460A>C XP_016861619.1:p.Lys1154Gln
XM_017006131.1:c.3460A>C XP_016861620.1:p.Lys1154Gln
XM_017006132.1:c.3460A>C XP_016861621.1:p.Lys1154Gln
XM_017006133.1:c.3460A>C XP_016861622.1:p.Lys1154Gln
XR_001740098.1:n.6609A>C
XR_001740099.1:n.6609A>C
NM_015512.5:c.3460A>C MANE Select NP_056327.4:p.Lys1154Gln
Search 100 bp 5'
Search 100 bp 3'