Canonical Allele Identifier: CA4675076

Gene: CHMP7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.23246682G>T , CM000670.2:g.23246682G>T	GRCh38
NC_000008.10:g.23104195G>T , CM000670.1:g.23104195G>T	GRCh37
NC_000008.9:g.23160140G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152272.5:c.-14G>T MANE Select	NP_689485.1:n.-14G>T
ENST00000397677.6:c.-14G>T MANE Select	ENSP00000380794.1:n.-14G>T
NM_001317899.1:c.-174G>T	NP_001304828.1:n.-174G>T
NM_001317899.2:c.-174G>T	NP_001304828.1:n.-174G>T
NM_001363183.1:c.-14G>T	NP_001350112.1:n.-14G>T
NM_001363183.2:c.-14G>T	NP_001350112.1:n.-14G>T
NM_152272.3:c.-14G>T	NP_689485.1:n.-14G>T
NM_152272.4:c.-14G>T	NP_689485.1:n.-14G>T
ENST00000313219.8:c.-14G>T	ENSP00000324491.7:n.-14G>T
ENST00000397677.5:c.-14G>T	ENSP00000380794.1:n.-14G>T
ENST00000517325.5:c.-14G>T	ENSP00000430321.1:n.-14G>T
ENST00000519414.5:c.-14G>T	ENSP00000428233.1:n.-14G>T
ENST00000519503.5:c.-14G>T	ENSP00000427948.1:n.-14G>T
ENST00000519529.1:n.24G>T
ENST00000519984.1:c.-14G>T	ENSP00000430661.1:n.-14G>T
XM_005273687.1:c.-174G>T	XP_005273744.1:n.-174G>T
XM_006716415.1:c.-14G>T	XP_006716478.1:n.-14G>T
XM_011544695.1:c.-555G>T	XP_011542997.1:n.-555G>T
XM_017013961.2:c.-14G>T	XP_016869450.1:n.-14G>T
XM_017013962.1:c.-555G>T	XP_016869451.1:n.-555G>T
XM_017013964.1:c.-1567G>T	XP_016869453.1:n.-1567G>T
XM_024447327.1:c.-174G>T	XP_024303095.1:n.-174G>T
XM_024447328.1:c.-174G>T	XP_024303096.1:n.-174G>T
XM_024447329.1:c.-174G>T	XP_024303097.1:n.-174G>T