Canonical Allele Identifier: CA516354314

Gene: CFP

Linked Data

• ClinVar Variation Id: 2863463
• ClinVar RCV Id: RCV003702307
• MyVariant Identifiers: chrX:g.47486976G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627577G>C , CM000685.2:g.47627577G>C	GRCh38
NC_000023.10:g.47486976G>C , CM000685.1:g.47486976G>C	GRCh37
NC_000023.9:g.47371920G>C	NCBI36
NG_009893.1:g.7729C>G , LRG_129:g.7729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.468C>G MANE Select	ENSP00000380189.3:p.Thr156=
ENST00000640573.1:n.706C>G
ENST00000247153.7:c.468C>G	ENSP00000247153.3:p.Thr156=
ENST00000377005.6:c.468C>G	ENSP00000366204.2:p.Thr156=
ENST00000396992.7:c.468C>G	ENSP00000380189.3:p.Thr156=
ENST00000469388.1:c.63C>G	ENSP00000418258.1:p.Thr21=
ENST00000485991.5:n.1765C>G
NM_001145252.1:c.468C>G	NP_001138724.1:p.Thr156=
NM_002621.2:c.468C>G , LRG_129t1:c.468C>G	NP_002612.1:p.Thr156=
XM_017029575.1:c.63C>G	XP_016885064.1:p.Thr21=
NM_001145252.3:c.468C>G MANE Select	NP_001138724.1:p.Thr156=