Canonical Allele Identifier: CA10398954

Gene: CFP

Linked Data

• ClinVar Variation Id: 1505433
• ClinVar RCV Id: RCV002035749
• dbSNP Id: rs745424947
• ExAC: X:47486975 G / A
• gnomAD v2: X-47486975-G-A
• gnomAD v3: X-47627576-G-A
• gnomAD v4: X-47627576-G-A
• MyVariant Identifiers: chrX:g.47486975G>A (hg19) ; chrX:g.47627576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627576G>A , CM000685.2:g.47627576G>A	GRCh38
NC_000023.10:g.47486975G>A , CM000685.1:g.47486975G>A	GRCh37
NC_000023.9:g.47371919G>A	NCBI36
NG_009893.1:g.7730C>T , LRG_129:g.7730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.469C>T MANE Select	ENSP00000380189.3:p.Arg157Trp
ENST00000640573.1:n.707C>T
ENST00000247153.7:c.469C>T	ENSP00000247153.3:p.Arg157Trp
ENST00000377005.6:c.469C>T	ENSP00000366204.2:p.Arg157Trp
ENST00000396992.7:c.469C>T	ENSP00000380189.3:p.Arg157Trp
ENST00000469388.1:c.64C>T	ENSP00000418258.1:p.Arg22Trp
ENST00000485991.5:n.1766C>T
NM_001145252.1:c.469C>T	NP_001138724.1:p.Arg157Trp
NM_002621.2:c.469C>T , LRG_129t1:c.469C>T	NP_002612.1:p.Arg157Trp
XM_017029575.1:c.64C>T	XP_016885064.1:p.Arg22Trp
NM_001145252.3:c.469C>T MANE Select	NP_001138724.1:p.Arg157Trp