Canonical Allele Identifier: CA412838813

Gene: CFP

Linked Data

• gnomAD v4: X-47627614-G-A
• COSMIC: COSM1661117
• MyVariant Identifiers: chrX:g.47487013G>A (hg19) ; chrX:g.47627614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627614G>A , CM000685.2:g.47627614G>A	GRCh38
NC_000023.10:g.47487013G>A , CM000685.1:g.47487013G>A	GRCh37
NC_000023.9:g.47371957G>A	NCBI36
NG_009893.1:g.7692C>T , LRG_129:g.7692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.431C>T MANE Select	ENSP00000380189.3:p.Pro144Leu
ENST00000640573.1:n.669C>T
ENST00000247153.7:c.431C>T	ENSP00000247153.3:p.Pro144Leu
ENST00000377005.6:c.431C>T	ENSP00000366204.2:p.Pro144Leu
ENST00000396992.7:c.431C>T	ENSP00000380189.3:p.Pro144Leu
ENST00000469388.1:c.26C>T	ENSP00000418258.1:p.Pro9Leu
ENST00000485991.5:n.1728C>T
NM_001145252.1:c.431C>T	NP_001138724.1:p.Pro144Leu
NM_002621.2:c.431C>T , LRG_129t1:c.431C>T	NP_002612.1:p.Pro144Leu
XM_017029575.1:c.26C>T	XP_016885064.1:p.Pro9Leu
NM_001145252.3:c.431C>T MANE Select	NP_001138724.1:p.Pro144Leu