Canonical Allele Identifier: CA850008990
Community Standard Title: NM_152272.5(CHMP7):c.-441+386C>A
Gene: CHMP7 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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