Canonical Allele Identifier: CA349956270

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195987065C>T , CM000664.2:g.195987065C>T	GRCh38
NC_000002.11:g.196851789C>T , CM000664.1:g.196851789C>T	GRCh37
NC_000002.10:g.196560034C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.1754+1G>A MANE Select	NP_061720.2:n.1754+1G>A
ENST00000312428.11:c.1754+1G>A MANE Select	ENSP00000311273.6:n.1754+1G>A
NM_018897.2:c.1754+1G>A	NP_061720.2:n.1754+1G>A
ENST00000312428.10:c.1754+1G>A	ENSP00000311273.6:n.1754+1G>A
XM_011511487.1:c.1754+1G>A	XP_011509789.1:n.1754+1G>A
XM_011511488.1:c.1634+1G>A	XP_011509790.1:n.1634+1G>A
XM_011511488.3:c.1634+1G>A	XP_011509790.1:n.1634+1G>A
XM_011511489.1:c.1616+1G>A	XP_011509791.1:n.1616+1G>A
XM_011511489.2:c.1616+1G>A	XP_011509791.1:n.1616+1G>A
XM_011511490.1:c.1754+1G>A	XP_011509792.1:n.1754+1G>A
XM_011511490.3:c.1754+1G>A	XP_011509792.1:n.1754+1G>A
XM_011511491.1:c.1754+1G>A	XP_011509793.1:n.1754+1G>A
XM_011511491.3:c.1754+1G>A	XP_011509793.1:n.1754+1G>A
XM_011511492.1:c.1754+1G>A	XP_011509794.1:n.1754+1G>A
XM_011511492.3:c.1754+1G>A	XP_011509794.1:n.1754+1G>A
XM_011511493.1:c.1754+1G>A	XP_011509795.1:n.1754+1G>A
XM_011511493.3:c.1754+1G>A	XP_011509795.1:n.1754+1G>A
XM_011511494.1:c.1754+1G>A	XP_011509796.1:n.1754+1G>A
XM_011511494.3:c.1754+1G>A	XP_011509796.1:n.1754+1G>A
XM_011511495.1:c.1754+1G>A	XP_011509797.1:n.1754+1G>A
XM_011511495.3:c.1754+1G>A	XP_011509797.1:n.1754+1G>A
XM_017004504.2:c.1481+1G>A	XP_016859993.1:n.1481+1G>A
XR_922968.1:n.3315+1G>A
XR_922968.3:n.1855+1G>A