Canonical Allele Identifier: CA412838580

Gene: CFP

Linked Data

• MyVariant Identifiers: chrX:g.47486906C>A (hg19) ; chrX:g.47627507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627507C>A , CM000685.2:g.47627507C>A	GRCh38
NC_000023.10:g.47486906C>A , CM000685.1:g.47486906C>A	GRCh37
NC_000023.9:g.47371850C>A	NCBI36
NG_009893.1:g.7799G>T , LRG_129:g.7799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.538G>T MANE Select	ENSP00000380189.3:p.Glu180Ter
ENST00000640573.1:n.776G>T
ENST00000247153.7:c.538G>T	ENSP00000247153.3:p.Glu180Ter
ENST00000377005.6:c.538G>T	ENSP00000366204.2:p.Glu180Ter
ENST00000396992.7:c.538G>T	ENSP00000380189.3:p.Glu180Ter
ENST00000469388.1:c.133G>T	ENSP00000418258.1:p.Glu45Ter
ENST00000485991.5:n.1835G>T
NM_001145252.1:c.538G>T	NP_001138724.1:p.Glu180Ter
NM_002621.2:c.538G>T , LRG_129t1:c.538G>T	NP_002612.1:p.Glu180Ter
XM_017029575.1:c.133G>T	XP_016885064.1:p.Glu45Ter
NM_001145252.3:c.538G>T MANE Select	NP_001138724.1:p.Glu180Ter