Canonical Allele Identifier: CA12833132
Community Standard Title: NM_152272.5(CHMP7):c.-441+386C>G
Gene: CHMP7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23244230C>G , CM000670.2:g.23244230C>G GRCh38
NC_000008.10:g.23101743C>G , CM000670.1:g.23101743C>G GRCh37
NC_000008.9:g.23157688C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_152272.5:c.-441+386C>G MANE Select NP_689485.1:n.-441+386C>G
ENST00000397677.6:c.-441+386C>G MANE Select ENSP00000380794.1:n.-441+386C>G
NM_152272.3:c.-441+386C>G NP_689485.1:n.-441+386C>G
NM_152272.4:c.-441+386C>G NP_689485.1:n.-441+386C>G
ENST00000397677.5:c.-441+386C>G ENSP00000380794.1:n.-441+386C>G
XM_011544695.1:c.-982+418C>G XP_011542997.1:n.-982+418C>G
XM_017013962.1:c.-982+418C>G XP_016869451.1:n.-982+418C>G
XM_017013964.1:c.-1994+418C>G XP_016869453.1:n.-1994+418C>G
XM_024447327.1:c.-601+418C>G XP_024303095.1:n.-601+418C>G
XM_024447328.1:c.-601+418C>G XP_024303096.1:n.-601+418C>G
XM_024447329.1:c.-601+418C>G XP_024303097.1:n.-601+418C>G