Canonical Allele Identifier: CA349947716

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195809744C>T , CM000664.2:g.195809744C>T	GRCh38
NC_000002.11:g.196674468C>T , CM000664.1:g.196674468C>T	GRCh37
NC_000002.10:g.196382713C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.9888+1G>A MANE Select	NP_061720.2:n.9888+1G>A
ENST00000312428.11:c.9888+1G>A MANE Select	ENSP00000311273.6:n.9888+1G>A
NM_018897.2:c.9888+1G>A	NP_061720.2:n.9888+1G>A
ENST00000312428.10:c.9888+1G>A	ENSP00000311273.6:n.9888+1G>A
XM_011511487.1:c.9888+1G>A	XP_011509789.1:n.9888+1G>A
XM_011511488.1:c.9768+1G>A	XP_011509790.1:n.9768+1G>A
XM_011511488.3:c.9768+1G>A	XP_011509790.1:n.9768+1G>A
XM_011511489.1:c.9750+1G>A	XP_011509791.1:n.9750+1G>A
XM_011511489.2:c.9750+1G>A	XP_011509791.1:n.9750+1G>A
XM_011511490.1:c.9663+1G>A	XP_011509792.1:n.9663+1G>A
XM_011511490.3:c.9663+1G>A	XP_011509792.1:n.9663+1G>A
XM_011511496.1:c.5532+1G>A	XP_011509798.1:n.5532+1G>A
XM_011511497.1:c.4260+1G>A	XP_011509799.1:n.4260+1G>A
XM_011511497.2:c.4260+1G>A	XP_011509799.1:n.4260+1G>A
XM_017004504.2:c.9615+1G>A	XP_016859993.1:n.9615+1G>A