Canonical Allele Identifier: CA430537512

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651890T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787166T>C , CM000664.2:g.195787166T>C	GRCh38
NC_000002.11:g.196651890T>C , CM000664.1:g.196651890T>C	GRCh37
NC_000002.10:g.196360135T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10722A>G MANE Select	ENSP00000311273.6:p.Glu3574=
ENST00000312428.10:c.10722A>G	ENSP00000311273.6:p.Glu3574=
ENST00000409063.5:c.171A>G	ENSP00000386912.1:p.Glu57=
NM_018897.2:c.10722A>G	NP_061720.2:p.Glu3574=
XM_011511487.1:c.10722A>G	XP_011509789.1:p.Glu3574=
XM_011511488.1:c.10602A>G	XP_011509790.1:p.Glu3534=
XM_011511489.1:c.10584A>G	XP_011509791.1:p.Glu3528=
XM_011511490.1:c.10497A>G	XP_011509792.1:p.Glu3499=
XM_011511496.1:c.6366A>G	XP_011509798.1:p.Glu2122=
XM_011511497.1:c.5094A>G	XP_011509799.1:p.Glu1698=
XM_011511488.3:c.10602A>G	XP_011509790.1:p.Glu3534=
XM_011511489.2:c.10584A>G	XP_011509791.1:p.Glu3528=
XM_011511490.3:c.10497A>G	XP_011509792.1:p.Glu3499=
XM_011511497.2:c.5094A>G	XP_011509799.1:p.Glu1698=
XM_017004504.2:c.10449A>G	XP_016859993.1:p.Glu3483=
NM_018897.3:c.10722A>G MANE Select	NP_061720.2:p.Glu3574=