Canonical Allele Identifier: CA2662432954

Gene: DNAH7

Linked Data

• gnomAD v4: 2-195787233-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787233A>C , CM000664.2:g.195787233A>C	GRCh38
NC_000002.11:g.196651957A>C , CM000664.1:g.196651957A>C	GRCh37
NC_000002.10:g.196360202A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312428.11:c.10717-62T>G MANE Select	ENSP00000311273.6:n.10717-62T>G
ENST00000312428.10:c.10717-62T>G	ENSP00000311273.6:n.10717-62T>G
ENST00000409063.5:c.166-62T>G	ENSP00000386912.1:n.166-62T>G
NM_018897.2:c.10717-62T>G	NP_061720.2:n.10717-62T>G
XM_011511487.1:c.10717-62T>G	XP_011509789.1:n.10717-62T>G
XM_011511488.1:c.10597-62T>G	XP_011509790.1:n.10597-62T>G
XM_011511489.1:c.10579-62T>G	XP_011509791.1:n.10579-62T>G
XM_011511490.1:c.10492-62T>G	XP_011509792.1:n.10492-62T>G
XM_011511496.1:c.6361-62T>G	XP_011509798.1:n.6361-62T>G
XM_011511497.1:c.5089-62T>G	XP_011509799.1:n.5089-62T>G
XM_011511488.3:c.10597-62T>G	XP_011509790.1:n.10597-62T>G
XM_011511489.2:c.10579-62T>G	XP_011509791.1:n.10579-62T>G
XM_011511490.3:c.10492-62T>G	XP_011509792.1:n.10492-62T>G
XM_011511497.2:c.5089-62T>G	XP_011509799.1:n.5089-62T>G
XM_017004504.2:c.10444-62T>G	XP_016859993.1:n.10444-62T>G
NM_018897.3:c.10717-62T>G MANE Select	NP_061720.2:n.10717-62T>G