Canonical Allele Identifier: CA349934021

Gene: DNAH7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10717G>T MANE Select	ENSP00000311273.6:p.Glu3573Ter
ENST00000312428.10:c.10717G>T	ENSP00000311273.6:p.Glu3573Ter
ENST00000409063.5:c.166G>T	ENSP00000386912.1:p.Glu56Ter
NM_018897.2:c.10717G>T	NP_061720.2:p.Glu3573Ter
XM_011511487.1:c.10717G>T	XP_011509789.1:p.Glu3573Ter
XM_011511488.1:c.10597G>T	XP_011509790.1:p.Glu3533Ter
XM_011511489.1:c.10579G>T	XP_011509791.1:p.Glu3527Ter
XM_011511490.1:c.10492G>T	XP_011509792.1:p.Glu3498Ter
XM_011511496.1:c.6361G>T	XP_011509798.1:p.Glu2121Ter
XM_011511497.1:c.5089G>T	XP_011509799.1:p.Glu1697Ter
XM_011511488.3:c.10597G>T	XP_011509790.1:p.Glu3533Ter
XM_011511489.2:c.10579G>T	XP_011509791.1:p.Glu3527Ter
XM_011511490.3:c.10492G>T	XP_011509792.1:p.Glu3498Ter
XM_011511497.2:c.5089G>T	XP_011509799.1:p.Glu1697Ter
XM_017004504.2:c.10444G>T	XP_016859993.1:p.Glu3482Ter
NM_018897.3:c.10717G>T MANE Select	NP_061720.2:p.Glu3573Ter