Canonical Allele Identifier: CA412838718

Gene: CFP

Linked Data

• ClinVar Variation Id: 1475060
• ClinVar RCV Id: RCV001973840
• dbSNP Id: rs1454386310
• gnomAD v3: X-47627570-G-A
• gnomAD v4: X-47627570-G-A
• MyVariant Identifiers: chrX:g.47486969G>A (hg19) ; chrX:g.47627570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627570G>A , CM000685.2:g.47627570G>A	GRCh38
NC_000023.10:g.47486969G>A , CM000685.1:g.47486969G>A	GRCh37
NC_000023.9:g.47371913G>A	NCBI36
NG_009893.1:g.7736C>T , LRG_129:g.7736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.475C>T MANE Select	ENSP00000380189.3:p.Arg159Cys
ENST00000640573.1:n.713C>T
ENST00000247153.7:c.475C>T	ENSP00000247153.3:p.Arg159Cys
ENST00000377005.6:c.475C>T	ENSP00000366204.2:p.Arg159Cys
ENST00000396992.7:c.475C>T	ENSP00000380189.3:p.Arg159Cys
ENST00000469388.1:c.70C>T	ENSP00000418258.1:p.Arg24Cys
ENST00000485991.5:n.1772C>T
NM_001145252.1:c.475C>T	NP_001138724.1:p.Arg159Cys
NM_002621.2:c.475C>T , LRG_129t1:c.475C>T	NP_002612.1:p.Arg159Cys
XM_017029575.1:c.70C>T	XP_016885064.1:p.Arg24Cys
NM_001145252.3:c.475C>T MANE Select	NP_001138724.1:p.Arg159Cys