Canonical Allele Identifier: CA3788730

Gene: DNAH8

Linked Data

• ClinVar Variation Id: 454566
• ClinVar RCV Id: RCV000537231 ; RCV004023704 ; RCV003144311 ; RCV003915475
• dbSNP Id: rs573755164
• ExAC: 6:38773351 T / A
• gnomAD v2: 6-38773351-T-A
• gnomAD v3: 6-38805575-T-A
• gnomAD v4: 6-38805575-T-A
• COSMIC: COSM4586721 ; COSM4586722 ; COSM4586723
• MyVariant Identifiers: chr6:g.38773351T>A (hg19) ; chr6:g.38773351_38773354delinsAAAA (hg19) ; chr6:g.38805575T>A (hg38) ; chr6:g.38805575_38805578delinsAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38805575T>A , CM000668.2:g.38805575T>A	GRCh38
NC_000006.11:g.38773351T>A , CM000668.1:g.38773351T>A	GRCh37
NC_000006.10:g.38881329T>A	NCBI36
NG_041805.1:g.95235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.3129T>A MANE Select	ENSP00000333363.7:p.Asp1043Glu
ENST00000327475.10:c.3129T>A	ENSP00000333363.7:p.Asp1043Glu
ENST00000359357.7:c.2478T>A	ENSP00000352312.3:p.Asp826Glu
ENST00000449981.6:c.3129T>A	ENSP00000415331.2:p.Asp1043Glu
NM_001206927.1:c.3129T>A	NP_001193856.1:p.Asp1043Glu
XM_011514318.1:c.3129T>A	XP_011512620.1:p.Asp1043Glu
XM_011514319.1:c.3129T>A	XP_011512621.1:p.Asp1043Glu
XM_011514320.1:c.2892T>A	XP_011512622.1:p.Asp964Glu
XM_011514321.1:c.2478T>A	XP_011512623.1:p.Asp826Glu
XM_011514322.1:c.3129T>A	XP_011512624.1:p.Asp1043Glu
XR_926078.1:n.3246T>A
NM_001371.3:c.2478T>A	NP_001362.2:p.Asp826Glu
XM_011514318.2:c.3129T>A	XP_011512620.1:p.Asp1043Glu
XM_011514319.2:c.3129T>A	XP_011512621.1:p.Asp1043Glu
XM_011514320.2:c.2892T>A	XP_011512622.1:p.Asp964Glu
XM_017010325.1:c.3129T>A	XP_016865814.1:p.Asp1043Glu
XM_017010326.1:c.3129T>A	XP_016865815.1:p.Asp1043Glu
XM_017010327.1:c.3129T>A	XP_016865816.1:p.Asp1043Glu
XR_001743188.1:n.3250T>A
XR_926078.2:n.3249T>A
NM_001206927.2:c.3129T>A MANE Select	NP_001193856.1:p.Asp1043Glu
NM_001371.4:c.2478T>A	NP_001362.2:p.Asp826Glu