Canonical Allele Identifier: CA8799786

Gene: DNAH17

Linked Data

• ClinVar Variation Id: 2454225
• ClinVar RCV Id: RCV003172757
• dbSNP Id: rs375968356
• ExAC: 17:76422545 C / T
• gnomAD v2: 17-76422545-C-T
• gnomAD v3: 17-78426464-C-T
• gnomAD v4: 17-78426464-C-T
• MyVariant Identifiers: chr17:g.76422545C>T (hg19) ; chr17:g.78426464C>T (hg38)

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