Canonical Allele Identifier: CA412838725

Gene: CFP

Linked Data

• ClinVar Variation Id: 2011905
• ClinVar RCV Id: RCV002838757
• MyVariant Identifiers: chrX:g.47486972T>C (hg19) ; chrX:g.47627573T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627573T>C , CM000685.2:g.47627573T>C	GRCh38
NC_000023.10:g.47486972T>C , CM000685.1:g.47486972T>C	GRCh37
NC_000023.9:g.47371916T>C	NCBI36
NG_009893.1:g.7733A>G , LRG_129:g.7733A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396992.8:c.472A>G MANE Select	ENSP00000380189.3:p.Thr158Ala
ENST00000640573.1:n.710A>G
ENST00000247153.7:c.472A>G	ENSP00000247153.3:p.Thr158Ala
ENST00000377005.6:c.472A>G	ENSP00000366204.2:p.Thr158Ala
ENST00000396992.7:c.472A>G	ENSP00000380189.3:p.Thr158Ala
ENST00000469388.1:c.67A>G	ENSP00000418258.1:p.Thr23Ala
ENST00000485991.5:n.1769A>G
NM_001145252.1:c.472A>G	NP_001138724.1:p.Thr158Ala
NM_002621.2:c.472A>G , LRG_129t1:c.472A>G	NP_002612.1:p.Thr158Ala
XM_017029575.1:c.67A>G	XP_016885064.1:p.Thr23Ala
NM_001145252.3:c.472A>G MANE Select	NP_001138724.1:p.Thr158Ala