Canonical Allele Identifier: CA412838822

Gene: CFP

Linked Data

• ClinVar Variation Id: 3004148
• ClinVar RCV Id: RCV003865787
• dbSNP Id: rs1190480861
• gnomAD v4: X-47627618-C-T
• MyVariant Identifiers: chrX:g.47487017C>T (hg19) ; chrX:g.47627618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627618C>T , CM000685.2:g.47627618C>T	GRCh38
NC_000023.10:g.47487017C>T , CM000685.1:g.47487017C>T	GRCh37
NC_000023.9:g.47371961C>T	NCBI36
NG_009893.1:g.7688G>A , LRG_129:g.7688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.427G>A MANE Select	ENSP00000380189.3:p.Gly143Arg
ENST00000640573.1:n.665G>A
ENST00000247153.7:c.427G>A	ENSP00000247153.3:p.Gly143Arg
ENST00000377005.6:c.427G>A	ENSP00000366204.2:p.Gly143Arg
ENST00000396992.7:c.427G>A	ENSP00000380189.3:p.Gly143Arg
ENST00000469388.1:c.22G>A	ENSP00000418258.1:p.Gly8Arg
ENST00000485991.5:n.1724G>A
NM_001145252.1:c.427G>A	NP_001138724.1:p.Gly143Arg
NM_002621.2:c.427G>A , LRG_129t1:c.427G>A	NP_002612.1:p.Gly143Arg
XM_017029575.1:c.22G>A	XP_016885064.1:p.Gly8Arg
NM_001145252.3:c.427G>A MANE Select	NP_001138724.1:p.Gly143Arg