Canonical Allele Identifier: CA344832902

Gene: CENPF

Linked Data

• dbSNP Id: rs1657523130
• gnomAD v3: 1-214622147-G-T
• gnomAD v4: 1-214622147-G-T
• MyVariant Identifiers: chr1:g.214795490G>T (hg19) ; chr1:g.214622147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214622147G>T , CM000663.2:g.214622147G>T	GRCh38
NC_000001.10:g.214795490G>T , CM000663.1:g.214795490G>T	GRCh37
NC_000001.9:g.212862113G>T	NCBI36
NG_046787.1:g.23969G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706764.1:n.1112G>T
ENST00000706765.1:c.934G>T	ENSP00000516538.1:p.Val312Leu
ENST00000366955.8:c.934G>T MANE Select	ENSP00000355922.3:p.Val312Leu
ENST00000366955.7:c.934G>T	ENSP00000355922.3:p.Val312Leu
NM_016343.3:c.934G>T	NP_057427.3:p.Val312Leu
XM_011509082.1:c.934G>T	XP_011507384.1:p.Val312Leu
XM_011509082.3:c.934G>T	XP_011507384.1:p.Val312Leu
XM_017000086.2:c.934G>T	XP_016855575.1:p.Val312Leu
NM_016343.4:c.934G>T MANE Select	NP_057427.3:p.Val312Leu