Canonical Allele Identifier: CA3790824

Gene: DNAH8 DNAH8-AS1

Linked Data

• ClinVar Variation Id: 454538
• ClinVar RCV Id: RCV001478058 ; RCV003325489
• dbSNP Id: rs147574550
• ExAC: 6:38890944 C / G
• gnomAD v2: 6-38890944-C-G
• gnomAD v3: 6-38923168-C-G
• gnomAD v4: 6-38923168-C-G
• MyVariant Identifiers: chr6:g.38890944C>G (hg19) ; chr6:g.38923168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38923168C>G , CM000668.2:g.38923168C>G	GRCh38
NC_000006.11:g.38890944C>G , CM000668.1:g.38890944C>G	GRCh37
NC_000006.10:g.38998922C>G	NCBI36
NG_041805.1:g.212828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.10773C>G (DNAH8) MANE Select	ENSP00000333363.7:p.Phe3591Leu
ENST00000327475.10:c.10773C>G (DNAH8)	ENSP00000333363.7:p.Phe3591Leu
ENST00000359357.7:c.10122C>G (DNAH8)	ENSP00000352312.3:p.Phe3374Leu
ENST00000449981.6:c.10773C>G (DNAH8)	ENSP00000415331.2:p.Phe3591Leu
NM_001206927.1:c.10773C>G (DNAH8)	NP_001193856.1:p.Phe3591Leu
NR_038401.1:n.699G>C (DNAH8-AS1)
XM_011514318.1:c.10710C>G (DNAH8)	XP_011512620.1:p.Phe3570Leu
XM_011514319.1:c.10665C>G (DNAH8)	XP_011512621.1:p.Phe3555Leu
XM_011514320.1:c.10536C>G (DNAH8)	XP_011512622.1:p.Phe3512Leu
XM_011514321.1:c.10122C>G (DNAH8)	XP_011512623.1:p.Phe3374Leu
XR_926078.1:n.10890C>G (DNAH8)
NM_001371.3:c.10122C>G (DNAH8)	NP_001362.2:p.Phe3374Leu
XM_011514318.2:c.10710C>G (DNAH8)	XP_011512620.1:p.Phe3570Leu
XM_011514319.2:c.10665C>G (DNAH8)	XP_011512621.1:p.Phe3555Leu
XM_011514320.2:c.10536C>G (DNAH8)	XP_011512622.1:p.Phe3512Leu
XM_017010325.1:c.10773C>G (DNAH8)	XP_016865814.1:p.Phe3591Leu
XM_017010326.1:c.10773C>G (DNAH8)	XP_016865815.1:p.Phe3591Leu
XR_926078.2:n.10893C>G (DNAH8)
NM_001206927.2:c.10773C>G (DNAH8) MANE Select	NP_001193856.1:p.Phe3591Leu
NM_001371.4:c.10122C>G (DNAH8)	NP_001362.2:p.Phe3374Leu