Canonical Allele Identifier: CA8799786
Gene: DNAH17 HGNC NCBI
ClinVar RCV:
RCV003172757
ClinVar Variation:
2454225
dbSNP:
375968356
gnomAD v2:
17:76422545 C / T
gnomAD v3:
17:78426464 C / T
gnomAD v4:
chr17-78426464-C-T
Joint Max Group AF 0.00003877 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00003739 (NFE)
MyVariant.info:
GRCh38 chr17:g.78426464C>T
GRCh37 chr17:g.76422545C>T
Revel Score:
ENST00000300671 0.323
ENST00000389840 (MANE Select) 0.323
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78426464C>T , CM000679.2:g.78426464C>T GRCh38
NC_000017.10:g.76422545C>T , CM000679.1:g.76422545C>T GRCh37
NC_000017.9:g.73934140C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000389840.7:c.12908G>A MANE Select ENSP00000374490.6:p.Arg4303His
ENST00000389840.6:c.12908G>A ENSP00000374490.6:p.Arg4303His
ENST00000585328.5:c.12893G>A ENSP00000465516.1:p.Arg4298His
ENST00000586052.5:n.6069G>A
ENST00000590227.5:n.2582G>A
ENST00000591369.5:c.4510G>A
ENST00000591647.1:n.257G>A
NM_173628.3:c.12908G>A NP_775899.3:p.Arg4303His
XM_011525416.1:c.12920G>A XP_011523718.1:p.Arg4307His
XM_011525418.1:c.6287G>A XP_011523720.1:p.Arg2096His
XM_011525416.2:c.12920G>A XP_011523718.1:p.Arg4307His
XM_017025261.2:c.6254G>A XP_016880750.1:p.Arg2085His
XM_024451013.1:c.12776G>A XP_024306781.1:p.Arg4259His
NM_173628.4:c.12908G>A MANE Select NP_775899.3:p.Arg4303His
Search 100 bp 5'
Search 100 bp 3'