Canonical Allele Identifier: CA11696132
Gene: CENPE HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.103133529A>G
GRCh37 chr4:g.104054686A>G
gnomAD v2:
4:104054686 A / G
gnomAD v3:
4:103133529 A / G
gnomAD v4:
chr4-103133529-A-G
Joint Max Group AF 0.41198191 (MID)
Genomes Max Group AF 0.40196099 (SAS)
ClinVar RCV:
RCV001707394
ClinVar Variation:
1288419
dbSNP:
2720460
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.103133529A>G , CM000666.2:g.103133529A>G GRCh38
NC_000004.11:g.104054686A>G , CM000666.1:g.104054686A>G GRCh37
NC_000004.10:g.104274135A>G NCBI36
NG_041798.1:g.69881T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000265148.9:c.6720+166T>C MANE Select ENSP00000265148.3:n.6720+166T>C
ENST00000380026.8:c.6357+166T>C ENSP00000369365.3:n.6357+166T>C
ENST00000265148.7:c.6720+166T>C ENSP00000265148.3:n.6720+166T>C
ENST00000380026.7:c.6357+166T>C ENSP00000369365.3:n.6357+166T>C
ENST00000611174.4:c.6609+166T>C ENSP00000483542.1:n.6609+166T>C
NM_001286734.1:c.6357+166T>C NP_001273663.1:n.6357+166T>C
NM_001813.2:c.6720+166T>C NP_001804.2:n.6720+166T>C
XM_011531544.1:c.6645+166T>C XP_011529846.1:n.6645+166T>C
XM_011531545.1:c.6561+166T>C XP_011529847.1:n.6561+166T>C
XM_011531546.1:c.6516+166T>C XP_011529848.1:n.6516+166T>C
XM_011531547.1:c.6432+166T>C XP_011529849.1:n.6432+166T>C
XM_011531548.1:c.6429+166T>C XP_011529850.1:n.6429+166T>C
XM_011531549.1:c.6276+166T>C XP_011529851.1:n.6276+166T>C
XM_011531544.2:c.6645+166T>C XP_011529846.1:n.6645+166T>C
XM_011531545.2:c.6561+166T>C XP_011529847.1:n.6561+166T>C
XM_011531546.3:c.6516+166T>C XP_011529848.1:n.6516+166T>C
XM_011531547.2:c.6432+166T>C XP_011529849.1:n.6432+166T>C
XM_011531548.2:c.6429+166T>C XP_011529850.1:n.6429+166T>C
XM_011531549.2:c.6276+166T>C XP_011529851.1:n.6276+166T>C
XM_017007659.1:c.6270+166T>C XP_016863148.1:n.6270+166T>C
NM_001286734.2:c.6357+166T>C NP_001273663.1:n.6357+166T>C
NM_001813.3:c.6720+166T>C MANE Select NP_001804.2:n.6720+166T>C
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