Canonical Allele Identifier: CA349933962

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651883T>A (hg19) ; chr2:g.195787159T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787159T>A , CM000664.2:g.195787159T>A	GRCh38
NC_000002.11:g.196651883T>A , CM000664.1:g.196651883T>A	GRCh37
NC_000002.10:g.196360128T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10729A>T MANE Select	ENSP00000311273.6:p.Lys3577Ter
ENST00000312428.10:c.10729A>T	ENSP00000311273.6:p.Lys3577Ter
ENST00000409063.5:c.178A>T	ENSP00000386912.1:p.Lys60Ter
NM_018897.2:c.10729A>T	NP_061720.2:p.Lys3577Ter
XM_011511487.1:c.10729A>T	XP_011509789.1:p.Lys3577Ter
XM_011511488.1:c.10609A>T	XP_011509790.1:p.Lys3537Ter
XM_011511489.1:c.10591A>T	XP_011509791.1:p.Lys3531Ter
XM_011511490.1:c.10504A>T	XP_011509792.1:p.Lys3502Ter
XM_011511496.1:c.6373A>T	XP_011509798.1:p.Lys2125Ter
XM_011511497.1:c.5101A>T	XP_011509799.1:p.Lys1701Ter
XM_011511488.3:c.10609A>T	XP_011509790.1:p.Lys3537Ter
XM_011511489.2:c.10591A>T	XP_011509791.1:p.Lys3531Ter
XM_011511490.3:c.10504A>T	XP_011509792.1:p.Lys3502Ter
XM_011511497.2:c.5101A>T	XP_011509799.1:p.Lys1701Ter
XM_017004504.2:c.10456A>T	XP_016859993.1:p.Lys3486Ter
NM_018897.3:c.10729A>T MANE Select	NP_061720.2:p.Lys3577Ter