Canonical Allele Identifier: CA3789179

Gene: DNAH8

Linked Data

• ClinVar Variation Id: 454573
• ClinVar RCV Id: RCV000550296
• dbSNP Id: rs78877915
• ExAC: 6:38810443 C / T
• gnomAD v2: 6-38810443-C-T
• gnomAD v3: 6-38842667-C-T
• gnomAD v4: 6-38842667-C-T
• COSMIC: COSM187374 ; COSM187375
• MyVariant Identifiers: chr6:g.38810443C>T (hg19) ; chr6:g.38842667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38842667C>T , CM000668.2:g.38842667C>T	GRCh38
NC_000006.11:g.38810443C>T , CM000668.1:g.38810443C>T	GRCh37
NC_000006.10:g.38918421C>T	NCBI36
NG_041805.1:g.132327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.4609C>T MANE Select	ENSP00000333363.7:p.Arg1537Cys
ENST00000327475.10:c.4609C>T	ENSP00000333363.7:p.Arg1537Cys
ENST00000359357.7:c.3958C>T	ENSP00000352312.3:p.Arg1320Cys
ENST00000449981.6:c.4609C>T	ENSP00000415331.2:p.Arg1537Cys
NM_001206927.1:c.4609C>T	NP_001193856.1:p.Arg1537Cys
XM_011514318.1:c.4546C>T	XP_011512620.1:p.Arg1516Cys
XM_011514319.1:c.4609C>T	XP_011512621.1:p.Arg1537Cys
XM_011514320.1:c.4372C>T	XP_011512622.1:p.Arg1458Cys
XM_011514321.1:c.3958C>T	XP_011512623.1:p.Arg1320Cys
XM_011514322.1:c.4609C>T	XP_011512624.1:p.Arg1537Cys
XR_926078.1:n.4726C>T
NM_001371.3:c.3958C>T	NP_001362.2:p.Arg1320Cys
XM_011514318.2:c.4546C>T	XP_011512620.1:p.Arg1516Cys
XM_011514319.2:c.4609C>T	XP_011512621.1:p.Arg1537Cys
XM_011514320.2:c.4372C>T	XP_011512622.1:p.Arg1458Cys
XM_017010325.1:c.4609C>T	XP_016865814.1:p.Arg1537Cys
XM_017010326.1:c.4609C>T	XP_016865815.1:p.Arg1537Cys
XM_017010327.1:c.4609C>T	XP_016865816.1:p.Arg1537Cys
XR_001743188.1:n.4730C>T
XR_926078.2:n.4729C>T
NM_001206927.2:c.4609C>T MANE Select	NP_001193856.1:p.Arg1537Cys
NM_001371.4:c.3958C>T	NP_001362.2:p.Arg1320Cys