Canonical Allele Identifier: CA364003411

Gene: DNAH8

Linked Data

• dbSNP Id: rs1774913948
• gnomAD v4: 6-38842676-C-T
• COSMIC: COSM3626614 ; COSM3626615 ; COSM3626616
• MyVariant Identifiers: chr6:g.38810452C>T (hg19) ; chr6:g.38842676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38842676C>T , CM000668.2:g.38842676C>T	GRCh38
NC_000006.11:g.38810452C>T , CM000668.1:g.38810452C>T	GRCh37
NC_000006.10:g.38918430C>T	NCBI36
NG_041805.1:g.132336C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000327475.11:c.4618C>T MANE Select	ENSP00000333363.7:p.Pro1540Ser
ENST00000327475.10:c.4618C>T	ENSP00000333363.7:p.Pro1540Ser
ENST00000359357.7:c.3967C>T	ENSP00000352312.3:p.Pro1323Ser
ENST00000449981.6:c.4618C>T	ENSP00000415331.2:p.Pro1540Ser
NM_001206927.1:c.4618C>T	NP_001193856.1:p.Pro1540Ser
XM_011514318.1:c.4555C>T	XP_011512620.1:p.Pro1519Ser
XM_011514319.1:c.4618C>T	XP_011512621.1:p.Pro1540Ser
XM_011514320.1:c.4381C>T	XP_011512622.1:p.Pro1461Ser
XM_011514321.1:c.3967C>T	XP_011512623.1:p.Pro1323Ser
XM_011514322.1:c.4618C>T	XP_011512624.1:p.Pro1540Ser
XR_926078.1:n.4735C>T
NM_001371.3:c.3967C>T	NP_001362.2:p.Pro1323Ser
XM_011514318.2:c.4555C>T	XP_011512620.1:p.Pro1519Ser
XM_011514319.2:c.4618C>T	XP_011512621.1:p.Pro1540Ser
XM_011514320.2:c.4381C>T	XP_011512622.1:p.Pro1461Ser
XM_017010325.1:c.4618C>T	XP_016865814.1:p.Pro1540Ser
XM_017010326.1:c.4618C>T	XP_016865815.1:p.Pro1540Ser
XM_017010327.1:c.4618C>T	XP_016865816.1:p.Pro1540Ser
XR_001743188.1:n.4739C>T
XR_926078.2:n.4738C>T
NM_001206927.2:c.4618C>T MANE Select	NP_001193856.1:p.Pro1540Ser
NM_001371.4:c.3967C>T	NP_001362.2:p.Pro1323Ser