Canonical Allele Identifier: CA412838852

Gene: CFP

Linked Data

• gnomAD v4: X-47627630-A-G
• MyVariant Identifiers: chrX:g.47487029A>G (hg19) ; chrX:g.47627630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627630A>G , CM000685.2:g.47627630A>G	GRCh38
NC_000023.10:g.47487029A>G , CM000685.1:g.47487029A>G	GRCh37
NC_000023.9:g.47371973A>G	NCBI36
NG_009893.1:g.7676T>C , LRG_129:g.7676T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.415T>C MANE Select	ENSP00000380189.3:p.Trp139Arg
ENST00000640573.1:n.653T>C
ENST00000247153.7:c.415T>C	ENSP00000247153.3:p.Trp139Arg
ENST00000377005.6:c.415T>C	ENSP00000366204.2:p.Trp139Arg
ENST00000396992.7:c.415T>C	ENSP00000380189.3:p.Trp139Arg
ENST00000469388.1:c.10T>C	ENSP00000418258.1:p.Trp4Arg
ENST00000485991.5:n.1712T>C
NM_001145252.1:c.415T>C	NP_001138724.1:p.Trp139Arg
NM_002621.2:c.415T>C , LRG_129t1:c.415T>C	NP_002612.1:p.Trp139Arg
XM_017029575.1:c.10T>C	XP_016885064.1:p.Trp4Arg
NM_001145252.3:c.415T>C MANE Select	NP_001138724.1:p.Trp139Arg