Canonical Allele Identifier: CA37394286
Gene: CENPF HGNC NCBI
ABHD17AP3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.214606084A>C
GRCh37 chr1:g.214779427A>C
gnomAD v2:
1:214779427 A / C
gnomAD v3:
1:214606084 A / C
gnomAD v4:
chr1-214606084-A-C
Joint Max Group AF 0.21162067 (AFR)
Genomes Max Group AF 0.23468414 (AFR)
Exomes Max Group AF 0.17509808 (AFR)
dbSNP:
7366282
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.214606084A>C , CM000663.2:g.214606084A>C GRCh38
NC_000001.10:g.214779427A>C , CM000663.1:g.214779427A>C GRCh37
NC_000001.9:g.212846050A>C NCBI36
NG_046787.1:g.7906A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706764.1:n.137+2763A>C (CENPF)
ENST00000706765.1:c.-42+2763A>C (CENPF) ENSP00000516538.1:n.-42+2763A>C
ENST00000366955.8:c.-42+2763A>C (CENPF) MANE Select ENSP00000355922.3:n.-42+2763A>C
ENST00000366955.7:c.-42+2763A>C (CENPF) ENSP00000355922.3:n.-42+2763A>C
ENST00000464322.5:n.127+2763A>C (CENPF)
ENST00000495259.1:n.165+2436A>C (CENPF)
ENST00000503096.1:n.528-5T>G (ABHD17AP3)
NM_016343.3:c.-42+2763A>C (CENPF) NP_057427.3:n.-42+2763A>C
XM_011509082.1:c.-42+2763A>C (CENPF) XP_011507384.1:n.-42+2763A>C
XM_011509082.3:c.-42+2763A>C (CENPF) XP_011507384.1:n.-42+2763A>C
NM_016343.4:c.-42+2763A>C (CENPF) MANE Select NP_057427.3:n.-42+2763A>C
Search 100 bp 5'
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