Canonical Allele Identifier: CA1040881760

Gene: DNAH7

Linked Data

• dbSNP Id: rs1695661235
• gnomAD v3: 2-195787174-G-A
• gnomAD v4: 2-195787174-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.195787174G>A , CM000664.2:g.195787174G>A	GRCh38
NC_000002.11:g.196651898G>A , CM000664.1:g.196651898G>A	GRCh37
NC_000002.10:g.196360143G>A	NCBI36

Transcript Alleles

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