Canonical Allele Identifier: CA423429529
Gene: CENPF HGNC NCBI

Linked Data

ClinVar Variation Id: 796598
ClinVar RCV Id: RCV000979995
dbSNP Id: rs1426847040
gnomAD v2: 1-214830451-T-C
gnomAD v3: 1-214657108-T-C
gnomAD v4: 1-214657108-T-C
MyVariant Identifiers: chr1:g.214830451T>C (hg19) chr1:g.214657108T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.214657108T>C , CM000663.2:g.214657108T>C GRCh38
NC_000001.10:g.214830451T>C , CM000663.1:g.214830451T>C GRCh37
NC_000001.9:g.212897074T>C NCBI36
NG_046787.1:g.58930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706765.1:c.8484T>C ENSP00000516538.1:p.His2828=
ENST00000706766.1:n.760T>C
ENST00000366955.8:c.8661T>C MANE Select ENSP00000355922.3:p.His2887=
ENST00000366955.7:c.8661T>C ENSP00000355922.3:p.His2887=
ENST00000469862.1:n.432T>C
NM_016343.3:c.8661T>C NP_057427.3:p.His2887=
XM_011509082.1:c.8484T>C XP_011507384.1:p.His2828=
XM_011509083.1:c.7596T>C XP_011507385.1:p.His2532=
XM_011509082.3:c.8484T>C XP_011507384.1:p.His2828=
XM_017000086.2:c.8661T>C XP_016855575.1:p.His2887=
NM_016343.4:c.8661T>C MANE Select NP_057427.3:p.His2887=
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