Canonical Allele Identifier: CA3788416

Gene: DNAH8

Linked Data

• ClinVar Variation Id: 454561
• ClinVar RCV Id: RCV000545575
• dbSNP Id: rs376576474
• ExAC: 6:38747842 G / A
• gnomAD v2: 6-38747842-G-A
• gnomAD v3: 6-38780066-G-A
• gnomAD v4: 6-38780066-G-A
• MyVariant Identifiers: chr6:g.38747842G>A (hg19) ; chr6:g.38780066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38780066G>A , CM000668.2:g.38780066G>A	GRCh38
NC_000006.11:g.38747842G>A , CM000668.1:g.38747842G>A	GRCh37
NC_000006.10:g.38855820G>A	NCBI36
NG_041805.1:g.69726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.2139+1G>A MANE Select	ENSP00000333363.7:n.2139+1G>A
ENST00000327475.10:c.2139+1G>A	ENSP00000333363.7:n.2139+1G>A
ENST00000359357.7:c.1488+1G>A	ENSP00000352312.3:n.1488+1G>A
ENST00000449981.6:c.2139+1G>A	ENSP00000415331.2:n.2139+1G>A
NM_001206927.1:c.2139+1G>A	NP_001193856.1:n.2139+1G>A
XM_011514318.1:c.2139+1G>A	XP_011512620.1:n.2139+1G>A
XM_011514319.1:c.2139+1G>A	XP_011512621.1:n.2139+1G>A
XM_011514320.1:c.1902+1G>A	XP_011512622.1:n.1902+1G>A
XM_011514321.1:c.1488+1G>A	XP_011512623.1:n.1488+1G>A
XM_011514322.1:c.2139+1G>A	XP_011512624.1:n.2139+1G>A
XR_926078.1:n.2256+1G>A
NM_001371.3:c.1488+1G>A	NP_001362.2:n.1488+1G>A
XM_011514318.2:c.2139+1G>A	XP_011512620.1:n.2139+1G>A
XM_011514319.2:c.2139+1G>A	XP_011512621.1:n.2139+1G>A
XM_011514320.2:c.1902+1G>A	XP_011512622.1:n.1902+1G>A
XM_017010325.1:c.2139+1G>A	XP_016865814.1:n.2139+1G>A
XM_017010326.1:c.2139+1G>A	XP_016865815.1:n.2139+1G>A
XM_017010327.1:c.2139+1G>A	XP_016865816.1:n.2139+1G>A
XR_001743188.1:n.2260+1G>A
XR_926078.2:n.2259+1G>A
NM_001206927.2:c.2139+1G>A MANE Select	NP_001193856.1:n.2139+1G>A
NM_001371.4:c.1488+1G>A	NP_001362.2:n.1488+1G>A