Canonical Allele Identifier: CA850013374

Gene: CHMP7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.23250065G>C , CM000670.2:g.23250065G>C	GRCh38
NC_000008.10:g.23107578G>C , CM000670.1:g.23107578G>C	GRCh37
NC_000008.9:g.23163523G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152272.5:c.471+684G>C MANE Select	NP_689485.1:n.471+684G>C
ENST00000397677.6:c.471+684G>C MANE Select	ENSP00000380794.1:n.471+684G>C
NM_001317899.1:c.141+684G>C	NP_001304828.1:n.141+684G>C
NM_001317899.2:c.141+684G>C	NP_001304828.1:n.141+684G>C
NM_001363183.1:c.471+684G>C	NP_001350112.1:n.471+684G>C
NM_001363183.2:c.471+684G>C	NP_001350112.1:n.471+684G>C
NM_152272.3:c.471+684G>C	NP_689485.1:n.471+684G>C
NM_152272.4:c.471+684G>C	NP_689485.1:n.471+684G>C
ENST00000313219.8:c.471+684G>C	ENSP00000324491.7:n.471+684G>C
ENST00000397677.5:c.471+684G>C	ENSP00000380794.1:n.471+684G>C
ENST00000517325.5:c.*61+684G>C	ENSP00000430321.1:n.*61+684G>C
ENST00000519414.5:c.471+684G>C	ENSP00000428233.1:n.471+684G>C
ENST00000519503.5:c.299+3071G>C	ENSP00000427948.1:n.299+3071G>C
ENST00000519529.1:n.336+3071G>C
ENST00000519984.1:c.510+1868G>C	ENSP00000430661.1:n.510+1868G>C
XM_005273687.1:c.141+684G>C	XP_005273744.1:n.141+684G>C
XM_006716415.1:c.471+684G>C	XP_006716478.1:n.471+684G>C
XM_011544695.1:c.141+684G>C	XP_011542997.1:n.141+684G>C
XM_017013961.2:c.471+684G>C	XP_016869450.1:n.471+684G>C
XM_017013962.1:c.141+684G>C	XP_016869451.1:n.141+684G>C
XM_017013964.1:c.141+684G>C	XP_016869453.1:n.141+684G>C
XM_024447327.1:c.141+684G>C	XP_024303095.1:n.141+684G>C
XM_024447328.1:c.141+684G>C	XP_024303096.1:n.141+684G>C
XM_024447329.1:c.141+684G>C	XP_024303097.1:n.141+684G>C