Canonical Allele Identifier: CA3790442

Gene: DNAH8

Linked Data

• ClinVar Variation Id: 525254
• ClinVar RCV Id: RCV000629305 ; RCV001310912 ; RCV003917999 ; RCV004025358
• dbSNP Id: rs139533720
• ExAC: 6:38874112 A / G
• gnomAD v2: 6-38874112-A-G
• gnomAD v3: 6-38906336-A-G
• gnomAD v4: 6-38906336-A-G
• MyVariant Identifiers: chr6:g.38874112A>G (hg19) ; chr6:g.38906336A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38906336A>G , CM000668.2:g.38906336A>G	GRCh38
NC_000006.11:g.38874112A>G , CM000668.1:g.38874112A>G	GRCh37
NC_000006.10:g.38982090A>G	NCBI36
NG_041805.1:g.195996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.9277A>G MANE Select	ENSP00000333363.7:p.Ile3093Val
ENST00000327475.10:c.9277A>G	ENSP00000333363.7:p.Ile3093Val
ENST00000359357.7:c.8626A>G	ENSP00000352312.3:p.Ile2876Val
ENST00000449981.6:c.9277A>G	ENSP00000415331.2:p.Ile3093Val
NM_001206927.1:c.9277A>G	NP_001193856.1:p.Ile3093Val
XM_011514318.1:c.9214A>G	XP_011512620.1:p.Ile3072Val
XM_011514319.1:c.9169A>G	XP_011512621.1:p.Ile3057Val
XM_011514320.1:c.9040A>G	XP_011512622.1:p.Ile3014Val
XM_011514321.1:c.8626A>G	XP_011512623.1:p.Ile2876Val
XR_926078.1:n.9394A>G
NM_001371.3:c.8626A>G	NP_001362.2:p.Ile2876Val
XM_011514318.2:c.9214A>G	XP_011512620.1:p.Ile3072Val
XM_011514319.2:c.9169A>G	XP_011512621.1:p.Ile3057Val
XM_011514320.2:c.9040A>G	XP_011512622.1:p.Ile3014Val
XM_017010325.1:c.9277A>G	XP_016865814.1:p.Ile3093Val
XM_017010326.1:c.9277A>G	XP_016865815.1:p.Ile3093Val
XR_926078.2:n.9397A>G
NM_001206927.2:c.9277A>G MANE Select	NP_001193856.1:p.Ile3093Val
NM_001371.4:c.8626A>G	NP_001362.2:p.Ile2876Val