Canonical Allele Identifier: CA349934011

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651893C>A (hg19) ; chr2:g.195787169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787169C>A , CM000664.2:g.195787169C>A	GRCh38
NC_000002.11:g.196651893C>A , CM000664.1:g.196651893C>A	GRCh37
NC_000002.10:g.196360138C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10719G>T MANE Select	ENSP00000311273.6:p.Glu3573Asp
ENST00000312428.10:c.10719G>T	ENSP00000311273.6:p.Glu3573Asp
ENST00000409063.5:c.168G>T	ENSP00000386912.1:p.Glu56Asp
NM_018897.2:c.10719G>T	NP_061720.2:p.Glu3573Asp
XM_011511487.1:c.10719G>T	XP_011509789.1:p.Glu3573Asp
XM_011511488.1:c.10599G>T	XP_011509790.1:p.Glu3533Asp
XM_011511489.1:c.10581G>T	XP_011509791.1:p.Glu3527Asp
XM_011511490.1:c.10494G>T	XP_011509792.1:p.Glu3498Asp
XM_011511496.1:c.6363G>T	XP_011509798.1:p.Glu2121Asp
XM_011511497.1:c.5091G>T	XP_011509799.1:p.Glu1697Asp
XM_011511488.3:c.10599G>T	XP_011509790.1:p.Glu3533Asp
XM_011511489.2:c.10581G>T	XP_011509791.1:p.Glu3527Asp
XM_011511490.3:c.10494G>T	XP_011509792.1:p.Glu3498Asp
XM_011511497.2:c.5091G>T	XP_011509799.1:p.Glu1697Asp
XM_017004504.2:c.10446G>T	XP_016859993.1:p.Glu3482Asp
NM_018897.3:c.10719G>T MANE Select	NP_061720.2:p.Glu3573Asp