Canonical Allele Identifier: CA412838824

Gene: CFP

Linked Data

• COSMIC: COSM6033916
• MyVariant Identifiers: chrX:g.47487018C>A (hg19) ; chrX:g.47627619C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627619C>A , CM000685.2:g.47627619C>A	GRCh38
NC_000023.10:g.47487018C>A , CM000685.1:g.47487018C>A	GRCh37
NC_000023.9:g.47371962C>A	NCBI36
NG_009893.1:g.7687G>T , LRG_129:g.7687G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.426G>T MANE Select	ENSP00000380189.3:p.Trp142Cys
ENST00000640573.1:n.664G>T
ENST00000247153.7:c.426G>T	ENSP00000247153.3:p.Trp142Cys
ENST00000377005.6:c.426G>T	ENSP00000366204.2:p.Trp142Cys
ENST00000396992.7:c.426G>T	ENSP00000380189.3:p.Trp142Cys
ENST00000469388.1:c.21G>T	ENSP00000418258.1:p.Trp7Cys
ENST00000485991.5:n.1723G>T
NM_001145252.1:c.426G>T	NP_001138724.1:p.Trp142Cys
NM_002621.2:c.426G>T , LRG_129t1:c.426G>T	NP_002612.1:p.Trp142Cys
XM_017029575.1:c.21G>T	XP_016885064.1:p.Trp7Cys
NM_001145252.3:c.426G>T MANE Select	NP_001138724.1:p.Trp142Cys