Canonical Allele Identifier: CA349934023

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651895C>T (hg19) ; chr2:g.195787171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787171C>T , CM000664.2:g.195787171C>T	GRCh38
NC_000002.11:g.196651895C>T , CM000664.1:g.196651895C>T	GRCh37
NC_000002.10:g.196360140C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10717G>A MANE Select	ENSP00000311273.6:p.Glu3573Lys
ENST00000312428.10:c.10717G>A	ENSP00000311273.6:p.Glu3573Lys
ENST00000409063.5:c.166G>A	ENSP00000386912.1:p.Glu56Lys
NM_018897.2:c.10717G>A	NP_061720.2:p.Glu3573Lys
XM_011511487.1:c.10717G>A	XP_011509789.1:p.Glu3573Lys
XM_011511488.1:c.10597G>A	XP_011509790.1:p.Glu3533Lys
XM_011511489.1:c.10579G>A	XP_011509791.1:p.Glu3527Lys
XM_011511490.1:c.10492G>A	XP_011509792.1:p.Glu3498Lys
XM_011511496.1:c.6361G>A	XP_011509798.1:p.Glu2121Lys
XM_011511497.1:c.5089G>A	XP_011509799.1:p.Glu1697Lys
XM_011511488.3:c.10597G>A	XP_011509790.1:p.Glu3533Lys
XM_011511489.2:c.10579G>A	XP_011509791.1:p.Glu3527Lys
XM_011511490.3:c.10492G>A	XP_011509792.1:p.Glu3498Lys
XM_011511497.2:c.5089G>A	XP_011509799.1:p.Glu1697Lys
XM_017004504.2:c.10444G>A	XP_016859993.1:p.Glu3482Lys
NM_018897.3:c.10717G>A MANE Select	NP_061720.2:p.Glu3573Lys