Canonical Allele Identifier: CA10647993
Gene: CCBE1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.59431510G>T
GRCh37 chr18:g.57098742G>T
gnomAD v2:
18:57098742 G / T
gnomAD v3:
18:59431510 G / T
gnomAD v4:
chr18-59431510-G-T
Joint Max Group AF 0.88677826 (SAS)
Genomes Max Group AF 0.88677826 (SAS)
Exomes Max Group AF 0.62209702 (NFE)
ClinVar Allele:
342230
ClinVar RCV:
RCV000346711
ClinVar Variation:
327597
dbSNP:
6567083
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59431510G>T , CM000680.2:g.59431510G>T GRCh38
NC_000018.9:g.57098742G>T , CM000680.1:g.57098742G>T GRCh37
NC_000018.8:g.55249722G>T NCBI36
NG_016990.1:g.270903C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650467.2:c.*4398C>A ENSP00000496897.2:n.*4398C>A
ENST00000439986.9:c.*4398C>A MANE Select ENSP00000404464.2:n.*4398C>A
ENST00000649564.1:c.*4398C>A ENSP00000497183.1:n.*4398C>A
ENST00000398179.3:c.5409C>A ENSP00000381241.3:n.5409C>A
ENST00000439986.8:c.*4398C>A ENSP00000404464.2:n.*4398C>A
NM_133459.3:c.*4398C>A NP_597716.1:n.*4398C>A
XM_005266648.2:c.*4398C>A XP_005266705.1:n.*4398C>A
NM_133459.4:c.*4398C>A MANE Select NP_597716.1:n.*4398C>A
XM_024451091.1:c.*4398C>A XP_024306859.1:n.*4398C>A
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