Canonical Allele Identifier: CA74738082
Gene: DNAH1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52397655G>A
GRCh37 chr3:g.52431671G>A
gnomAD v2:
3:52431671 G / A
gnomAD v3:
3:52397655 G / A
gnomAD v4:
chr3-52397655-G-A
Joint Max Group AF 0.18050312 (NFE)
Genomes Max Group AF 0.17601919 (AFR)
Exomes Max Group AF 0.18320484 (AFR)
ClinVar RCV:
RCV001693096
ClinVar Variation:
1279523
dbSNP:
390802
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52397655G>A , CM000665.2:g.52397655G>A GRCh38
NC_000003.11:g.52431671G>A , CM000665.1:g.52431671G>A GRCh37
NC_000003.10:g.52406711G>A NCBI36
NG_052911.1:g.86337G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420323.7:c.11788-52G>A MANE Select ENSP00000401514.2:n.11788-52G>A
ENST00000420323.6:c.11788-52G>A ENSP00000401514.2:n.11788-52G>A
ENST00000486752.5:n.12245-52G>A
ENST00000488988.5:n.3574-52G>A
ENST00000490713.5:c.2488-52G>A ENSP00000419071.1:n.2488-52G>A
NM_015512.4:c.11788-52G>A NP_056327.4:n.11788-52G>A
XM_011533577.1:c.11857-52G>A XP_011531879.1:n.11857-52G>A
XM_017006129.1:c.11857-52G>A XP_016861618.1:n.11857-52G>A
XM_017006130.1:c.11788-52G>A XP_016861619.1:n.11788-52G>A
XM_017006131.1:c.11731-52G>A XP_016861620.1:n.11731-52G>A
XR_001740098.1:n.15006-52G>A
XR_001740099.1:n.15006-52G>A
NM_015512.5:c.11788-52G>A MANE Select NP_056327.4:n.11788-52G>A
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