Canonical Allele Identifier: CA2035349

Gene: DNAH7

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195884761C>T , CM000664.2:g.195884761C>T	GRCh38
NC_000002.11:g.196749485C>T , CM000664.1:g.196749485C>T	GRCh37
NC_000002.10:g.196457730C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_018897.3:c.5587G>A MANE Select	NP_061720.2:p.Asp1863Asn
ENST00000312428.11:c.5587G>A MANE Select	ENSP00000311273.6:p.Asp1863Asn
NM_018897.2:c.5587G>A	NP_061720.2:p.Asp1863Asn
ENST00000312428.10:c.5587G>A	ENSP00000311273.6:p.Asp1863Asn
XM_011511487.1:c.5587G>A	XP_011509789.1:p.Asp1863Asn
XM_011511488.1:c.5467G>A	XP_011509790.1:p.Asp1823Asn
XM_011511488.3:c.5467G>A	XP_011509790.1:p.Asp1823Asn
XM_011511489.1:c.5449G>A	XP_011509791.1:p.Asp1817Asn
XM_011511489.2:c.5449G>A	XP_011509791.1:p.Asp1817Asn
XM_011511490.1:c.5538+1380G>A	XP_011509792.1:n.5538+1380G>A
XM_011511490.3:c.5538+1380G>A	XP_011509792.1:n.5538+1380G>A
XM_011511491.1:c.5587G>A	XP_011509793.1:p.Asp1863Asn
XM_011511491.3:c.5587G>A	XP_011509793.1:p.Asp1863Asn
XM_011511492.1:c.5587G>A	XP_011509794.1:p.Asp1863Asn
XM_011511492.3:c.5587G>A	XP_011509794.1:p.Asp1863Asn
XM_011511493.1:c.5587G>A	XP_011509795.1:p.Asp1863Asn
XM_011511493.3:c.5587G>A	XP_011509795.1:p.Asp1863Asn
XM_011511494.1:c.5587G>A	XP_011509796.1:p.Asp1863Asn
XM_011511494.3:c.5587G>A	XP_011509796.1:p.Asp1863Asn
XM_011511495.1:c.5587G>A	XP_011509797.1:p.Asp1863Asn
XM_011511495.3:c.5587G>A	XP_011509797.1:p.Asp1863Asn
XM_011511496.1:c.1231G>A	XP_011509798.1:p.Asp411Asn
XM_011511497.1:c.-41-1G>A	XP_011509799.1:n.-41-1G>A
XM_011511497.2:c.-41-1G>A	XP_011509799.1:n.-41-1G>A
XM_017004504.2:c.5314G>A	XP_016859993.1:p.Asp1772Asn
XR_922968.1:n.7148G>A
XR_922968.3:n.5688G>A