Canonical Allele Identifier: CA2033582

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195738049G>A , CM000664.2:g.195738049G>A	GRCh38
NC_000002.11:g.196602773G>A , CM000664.1:g.196602773G>A	GRCh37
NC_000002.10:g.196311018G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.11947C>T MANE Select	NP_061720.2:p.Arg3983Trp
ENST00000312428.11:c.11947C>T MANE Select	ENSP00000311273.6:p.Arg3983Trp
NM_018897.2:c.11947C>T	NP_061720.2:p.Arg3983Trp
ENST00000312428.10:c.11947C>T	ENSP00000311273.6:p.Arg3983Trp
ENST00000409063.5:c.1396C>T	ENSP00000386912.1:p.Arg466Trp
ENST00000438565.1:c.249C>T	ENSP00000409732.1:n.249C>T
ENST00000484183.1:n.445C>T
XM_011511487.1:c.11947C>T	XP_011509789.1:p.Arg3983Trp
XM_011511488.1:c.11827C>T	XP_011509790.1:p.Arg3943Trp
XM_011511488.3:c.11827C>T	XP_011509790.1:p.Arg3943Trp
XM_011511489.1:c.11809C>T	XP_011509791.1:p.Arg3937Trp
XM_011511489.2:c.11809C>T	XP_011509791.1:p.Arg3937Trp
XM_011511490.1:c.11722C>T	XP_011509792.1:p.Arg3908Trp
XM_011511490.3:c.11722C>T	XP_011509792.1:p.Arg3908Trp
XM_011511496.1:c.7591C>T	XP_011509798.1:p.Arg2531Trp
XM_011511497.1:c.6319C>T	XP_011509799.1:p.Arg2107Trp
XM_011511497.2:c.6319C>T	XP_011509799.1:p.Arg2107Trp
XM_017004504.2:c.11674C>T	XP_016859993.1:p.Arg3892Trp