Canonical Allele Identifier: CA370586329

Gene: CHMP7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.23256547C>G , CM000670.2:g.23256547C>G	GRCh38
NC_000008.10:g.23114060C>G , CM000670.1:g.23114060C>G	GRCh37
NC_000008.9:g.23170005C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397677.6:c.745C>G MANE Select	ENSP00000380794.1:p.Gln249Glu
ENST00000313219.8:c.745C>G	ENSP00000324491.7:p.Gln249Glu
ENST00000397677.5:c.745C>G	ENSP00000380794.1:p.Gln249Glu
ENST00000517325.5:c.*335C>G	ENSP00000430321.1:n.*335C>G
ENST00000519414.5:c.*365C>G	ENSP00000428233.1:n.*365C>G
ENST00000519503.5:c.*81C>G	ENSP00000427948.1:n.*81C>G
ENST00000519529.1:n.522+1115C>G
ENST00000523091.5:n.715C>G
NM_152272.3:c.745C>G	NP_689485.1:p.Gln249Glu
XM_005273687.1:c.415C>G	XP_005273744.1:p.Gln139Glu
XM_006716415.1:c.745C>G	XP_006716478.1:p.Gln249Glu
XM_011544695.1:c.415C>G	XP_011542997.1:p.Gln139Glu
NM_001317899.1:c.415C>G	NP_001304828.1:p.Gln139Glu
NM_001363183.1:c.745C>G	NP_001350112.1:p.Gln249Glu
NM_152272.4:c.745C>G	NP_689485.1:p.Gln249Glu
XM_017013961.2:c.745C>G	XP_016869450.1:p.Gln249Glu
XM_017013962.1:c.415C>G	XP_016869451.1:p.Gln139Glu
XM_017013964.1:c.415C>G	XP_016869453.1:p.Gln139Glu
XM_024447327.1:c.415C>G	XP_024303095.1:p.Gln139Glu
XM_024447328.1:c.415C>G	XP_024303096.1:p.Gln139Glu
XM_024447329.1:c.415C>G	XP_024303097.1:p.Gln139Glu
NM_152272.5:c.745C>G MANE Select	NP_689485.1:p.Gln249Glu
NM_001317899.2:c.415C>G	NP_001304828.1:p.Gln139Glu
NM_001363183.2:c.745C>G	NP_001350112.1:p.Gln249Glu