Canonical Allele Identifier: CA349933915

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651863A>C (hg19) ; chr2:g.195787139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787139A>C , CM000664.2:g.195787139A>C	GRCh38
NC_000002.11:g.196651863A>C , CM000664.1:g.196651863A>C	GRCh37
NC_000002.10:g.196360108A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10749T>G MANE Select	ENSP00000311273.6:p.Cys3583Trp
ENST00000312428.10:c.10749T>G	ENSP00000311273.6:p.Cys3583Trp
ENST00000409063.5:c.198T>G	ENSP00000386912.1:p.Cys66Trp
NM_018897.2:c.10749T>G	NP_061720.2:p.Cys3583Trp
XM_011511487.1:c.10749T>G	XP_011509789.1:p.Cys3583Trp
XM_011511488.1:c.10629T>G	XP_011509790.1:p.Cys3543Trp
XM_011511489.1:c.10611T>G	XP_011509791.1:p.Cys3537Trp
XM_011511490.1:c.10524T>G	XP_011509792.1:p.Cys3508Trp
XM_011511496.1:c.6393T>G	XP_011509798.1:p.Cys2131Trp
XM_011511497.1:c.5121T>G	XP_011509799.1:p.Cys1707Trp
XM_011511488.3:c.10629T>G	XP_011509790.1:p.Cys3543Trp
XM_011511489.2:c.10611T>G	XP_011509791.1:p.Cys3537Trp
XM_011511490.3:c.10524T>G	XP_011509792.1:p.Cys3508Trp
XM_011511497.2:c.5121T>G	XP_011509799.1:p.Cys1707Trp
XM_017004504.2:c.10476T>G	XP_016859993.1:p.Cys3492Trp
NM_018897.3:c.10749T>G MANE Select	NP_061720.2:p.Cys3583Trp