Canonical Allele Identifier: CA344834271

Gene: CENPF

Linked Data

• dbSNP Id: rs1318845632
• gnomAD v2: 1-214795584-T-C
• gnomAD v4: 1-214622241-T-C
• MyVariant Identifiers: chr1:g.214795584T>C (hg19) ; chr1:g.214622241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214622241T>C , CM000663.2:g.214622241T>C	GRCh38
NC_000001.10:g.214795584T>C , CM000663.1:g.214795584T>C	GRCh37
NC_000001.9:g.212862207T>C	NCBI36
NG_046787.1:g.24063T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706764.1:n.1206T>C
ENST00000706765.1:c.1028T>C	ENSP00000516538.1:p.Leu343Pro
ENST00000366955.8:c.1028T>C MANE Select	ENSP00000355922.3:p.Leu343Pro
ENST00000366955.7:c.1028T>C	ENSP00000355922.3:p.Leu343Pro
NM_016343.3:c.1028T>C	NP_057427.3:p.Leu343Pro
XM_011509082.1:c.1028T>C	XP_011507384.1:p.Leu343Pro
XM_011509082.3:c.1028T>C	XP_011507384.1:p.Leu343Pro
XM_017000086.2:c.1028T>C	XP_016855575.1:p.Leu343Pro
NM_016343.4:c.1028T>C MANE Select	NP_057427.3:p.Leu343Pro