Canonical Allele Identifier: CA349933923

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651865A>G (hg19) ; chr2:g.195787141A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787141A>G , CM000664.2:g.195787141A>G	GRCh38
NC_000002.11:g.196651865A>G , CM000664.1:g.196651865A>G	GRCh37
NC_000002.10:g.196360110A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10747T>C MANE Select	ENSP00000311273.6:p.Cys3583Arg
ENST00000312428.10:c.10747T>C	ENSP00000311273.6:p.Cys3583Arg
ENST00000409063.5:c.196T>C	ENSP00000386912.1:p.Cys66Arg
NM_018897.2:c.10747T>C	NP_061720.2:p.Cys3583Arg
XM_011511487.1:c.10747T>C	XP_011509789.1:p.Cys3583Arg
XM_011511488.1:c.10627T>C	XP_011509790.1:p.Cys3543Arg
XM_011511489.1:c.10609T>C	XP_011509791.1:p.Cys3537Arg
XM_011511490.1:c.10522T>C	XP_011509792.1:p.Cys3508Arg
XM_011511496.1:c.6391T>C	XP_011509798.1:p.Cys2131Arg
XM_011511497.1:c.5119T>C	XP_011509799.1:p.Cys1707Arg
XM_011511488.3:c.10627T>C	XP_011509790.1:p.Cys3543Arg
XM_011511489.2:c.10609T>C	XP_011509791.1:p.Cys3537Arg
XM_011511490.3:c.10522T>C	XP_011509792.1:p.Cys3508Arg
XM_011511497.2:c.5119T>C	XP_011509799.1:p.Cys1707Arg
XM_017004504.2:c.10474T>C	XP_016859993.1:p.Cys3492Arg
NM_018897.3:c.10747T>C MANE Select	NP_061720.2:p.Cys3583Arg