Canonical Allele Identifier: CA412838775

Gene: CFP

Linked Data

• gnomAD v4: X-47627597-C-T
• MyVariant Identifiers: chrX:g.47486996C>T (hg19) ; chrX:g.47627597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627597C>T , CM000685.2:g.47627597C>T	GRCh38
NC_000023.10:g.47486996C>T , CM000685.1:g.47486996C>T	GRCh37
NC_000023.9:g.47371940C>T	NCBI36
NG_009893.1:g.7709G>A , LRG_129:g.7709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.448G>A MANE Select	ENSP00000380189.3:p.Val150Ile
ENST00000640573.1:n.686G>A
ENST00000247153.7:c.448G>A	ENSP00000247153.3:p.Val150Ile
ENST00000377005.6:c.448G>A	ENSP00000366204.2:p.Val150Ile
ENST00000396992.7:c.448G>A	ENSP00000380189.3:p.Val150Ile
ENST00000469388.1:c.43G>A	ENSP00000418258.1:p.Val15Ile
ENST00000485991.5:n.1745G>A
NM_001145252.1:c.448G>A	NP_001138724.1:p.Val150Ile
NM_002621.2:c.448G>A , LRG_129t1:c.448G>A	NP_002612.1:p.Val150Ile
XM_017029575.1:c.43G>A	XP_016885064.1:p.Val15Ile
NM_001145252.3:c.448G>A MANE Select	NP_001138724.1:p.Val150Ile