Canonical Allele Identifier: CA2436154
Gene: DNAH1 HGNC NCBI
ClinVar RCV:
RCV000455805
RCV001511093
RCV001643147
RCV001662388
RCV001662389
ClinVar Variation:
402604
dbSNP:
12163565
gnomAD v2:
3:52430526 G / A
gnomAD v3:
3:52396510 G / A
gnomAD v4:
chr3-52396510-G-A
Joint Max Group AF 0.23218393 (SAS)
Genomes Max Group AF 0.25752589 (EAS)
Exomes Max Group AF 0.23246912 (SAS)
MyVariant.info:
GRCh38 chr3:g.52396510G>A
GRCh37 chr3:g.52430526G>A
Revel Score:
ENST00000420323 (MANE Select) 0.041
ENST00000273600 0.041
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52396510G>A , CM000665.2:g.52396510G>A GRCh38
NC_000003.11:g.52430526G>A , CM000665.1:g.52430526G>A GRCh37
NC_000003.10:g.52405566G>A NCBI36
NG_052911.1:g.85192G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420323.7:c.11402G>A MANE Select ENSP00000401514.2:p.Gly3801Asp
ENST00000420323.6:c.11402G>A ENSP00000401514.2:p.Gly3801Asp
ENST00000486752.5:n.11859G>A
ENST00000488988.5:n.3188G>A
ENST00000490713.5:c.2102G>A ENSP00000419071.1:p.Gly701Asp
NM_015512.4:c.11402G>A NP_056327.4:p.Gly3801Asp
XM_011533577.1:c.11471G>A XP_011531879.1:p.Gly3824Asp
XM_017006129.1:c.11471G>A XP_016861618.1:p.Gly3824Asp
XM_017006130.1:c.11402G>A XP_016861619.1:p.Gly3801Asp
XM_017006131.1:c.11345G>A XP_016861620.1:p.Gly3782Asp
XR_001740098.1:n.14620G>A
XR_001740099.1:n.14620G>A
NM_015512.5:c.11402G>A MANE Select NP_056327.4:p.Gly3801Asp
Search 100 bp 5'
Search 100 bp 3'