Canonical Allele Identifier: CA349936811

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195794453T>C , CM000664.2:g.195794453T>C	GRCh38
NC_000002.11:g.196659177T>C , CM000664.1:g.196659177T>C	GRCh37
NC_000002.10:g.196367422T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.10601A>G MANE Select	NP_061720.2:p.Gln3534Arg
ENST00000312428.11:c.10601A>G MANE Select	ENSP00000311273.6:p.Gln3534Arg
NM_018897.2:c.10601A>G	NP_061720.2:p.Gln3534Arg
ENST00000312428.10:c.10601A>G	ENSP00000311273.6:p.Gln3534Arg
ENST00000409063.5:c.50A>G	ENSP00000386912.1:p.Gln17Arg
XM_011511487.1:c.10601A>G	XP_011509789.1:p.Gln3534Arg
XM_011511488.1:c.10481A>G	XP_011509790.1:p.Gln3494Arg
XM_011511488.3:c.10481A>G	XP_011509790.1:p.Gln3494Arg
XM_011511489.1:c.10463A>G	XP_011509791.1:p.Gln3488Arg
XM_011511489.2:c.10463A>G	XP_011509791.1:p.Gln3488Arg
XM_011511490.1:c.10376A>G	XP_011509792.1:p.Gln3459Arg
XM_011511490.3:c.10376A>G	XP_011509792.1:p.Gln3459Arg
XM_011511496.1:c.6245A>G	XP_011509798.1:p.Gln2082Arg
XM_011511497.1:c.4973A>G	XP_011509799.1:p.Gln1658Arg
XM_011511497.2:c.4973A>G	XP_011509799.1:p.Gln1658Arg
XM_017004504.2:c.10328A>G	XP_016859993.1:p.Gln3443Arg