Canonical Allele Identifier: CA2034333

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195816778C>T , CM000664.2:g.195816778C>T	GRCh38
NC_000002.11:g.196681502C>T , CM000664.1:g.196681502C>T	GRCh37
NC_000002.10:g.196389747C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.9611G>A MANE Select	NP_061720.2:p.Arg3204His
ENST00000312428.11:c.9611G>A MANE Select	ENSP00000311273.6:p.Arg3204His
NM_018897.2:c.9611G>A	NP_061720.2:p.Arg3204His
ENST00000312428.10:c.9611G>A	ENSP00000311273.6:p.Arg3204His
XM_011511487.1:c.9611G>A	XP_011509789.1:p.Arg3204His
XM_011511488.1:c.9491G>A	XP_011509790.1:p.Arg3164His
XM_011511488.3:c.9491G>A	XP_011509790.1:p.Arg3164His
XM_011511489.1:c.9473G>A	XP_011509791.1:p.Arg3158His
XM_011511489.2:c.9473G>A	XP_011509791.1:p.Arg3158His
XM_011511490.1:c.9386G>A	XP_011509792.1:p.Arg3129His
XM_011511490.3:c.9386G>A	XP_011509792.1:p.Arg3129His
XM_011511496.1:c.5255G>A	XP_011509798.1:p.Arg1752His
XM_011511497.1:c.3983G>A	XP_011509799.1:p.Arg1328His
XM_011511497.2:c.3983G>A	XP_011509799.1:p.Arg1328His
XM_017004504.2:c.9338G>A	XP_016859993.1:p.Arg3113His