Canonical Allele Identifier: CA3790412

Gene: DNAH8

Linked Data

• ClinVar Variation Id: 238657
• ClinVar RCV Id: RCV000228661 ; RCV003417812
• dbSNP Id: rs144711161
• ExAC: 6:38867683 G / A
• gnomAD v2: 6-38867683-G-A
• gnomAD v3: 6-38899907-G-A
• gnomAD v4: 6-38899907-G-A
• MyVariant Identifiers: chr6:g.38867683G>A (hg19) ; chr6:g.38899907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38899907G>A , CM000668.2:g.38899907G>A	GRCh38
NC_000006.11:g.38867683G>A , CM000668.1:g.38867683G>A	GRCh37
NC_000006.10:g.38975661G>A	NCBI36
NG_041805.1:g.189567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.9194+1G>A MANE Select	ENSP00000333363.7:n.9194+1G>A
ENST00000327475.10:c.9194+1G>A	ENSP00000333363.7:n.9194+1G>A
ENST00000359357.7:c.8543+1G>A	ENSP00000352312.3:n.8543+1G>A
ENST00000449981.6:c.9194+1G>A	ENSP00000415331.2:n.9194+1G>A
NM_001206927.1:c.9194+1G>A	NP_001193856.1:n.9194+1G>A
XM_011514318.1:c.9131+1G>A	XP_011512620.1:n.9131+1G>A
XM_011514319.1:c.9086+1G>A	XP_011512621.1:n.9086+1G>A
XM_011514320.1:c.8957+1G>A	XP_011512622.1:n.8957+1G>A
XM_011514321.1:c.8543+1G>A	XP_011512623.1:n.8543+1G>A
XR_926078.1:n.9311+1G>A
NM_001371.3:c.8543+1G>A	NP_001362.2:n.8543+1G>A
XM_011514318.2:c.9131+1G>A	XP_011512620.1:n.9131+1G>A
XM_011514319.2:c.9086+1G>A	XP_011512621.1:n.9086+1G>A
XM_011514320.2:c.8957+1G>A	XP_011512622.1:n.8957+1G>A
XM_017010325.1:c.9194+1G>A	XP_016865814.1:n.9194+1G>A
XM_017010326.1:c.9194+1G>A	XP_016865815.1:n.9194+1G>A
XR_926078.2:n.9314+1G>A
NM_001206927.2:c.9194+1G>A MANE Select	NP_001193856.1:n.9194+1G>A
NM_001371.4:c.8543+1G>A	NP_001362.2:n.8543+1G>A