Canonical Allele Identifier: CA349934008

Gene: DNAH7

Linked Data

• MyVariant Identifiers: chr2:g.196651892C>G (hg19) ; chr2:g.195787168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787168C>G , CM000664.2:g.195787168C>G	GRCh38
NC_000002.11:g.196651892C>G , CM000664.1:g.196651892C>G	GRCh37
NC_000002.10:g.196360137C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10720G>C MANE Select	ENSP00000311273.6:p.Glu3574Gln
ENST00000312428.10:c.10720G>C	ENSP00000311273.6:p.Glu3574Gln
ENST00000409063.5:c.169G>C	ENSP00000386912.1:p.Glu57Gln
NM_018897.2:c.10720G>C	NP_061720.2:p.Glu3574Gln
XM_011511487.1:c.10720G>C	XP_011509789.1:p.Glu3574Gln
XM_011511488.1:c.10600G>C	XP_011509790.1:p.Glu3534Gln
XM_011511489.1:c.10582G>C	XP_011509791.1:p.Glu3528Gln
XM_011511490.1:c.10495G>C	XP_011509792.1:p.Glu3499Gln
XM_011511496.1:c.6364G>C	XP_011509798.1:p.Glu2122Gln
XM_011511497.1:c.5092G>C	XP_011509799.1:p.Glu1698Gln
XM_011511488.3:c.10600G>C	XP_011509790.1:p.Glu3534Gln
XM_011511489.2:c.10582G>C	XP_011509791.1:p.Glu3528Gln
XM_011511490.3:c.10495G>C	XP_011509792.1:p.Glu3499Gln
XM_011511497.2:c.5092G>C	XP_011509799.1:p.Glu1698Gln
XM_017004504.2:c.10447G>C	XP_016859993.1:p.Glu3483Gln
NM_018897.3:c.10720G>C MANE Select	NP_061720.2:p.Glu3574Gln