Canonical Allele Identifier: CA10398959
Gene: CFP HGNC NCBI

Linked Data

ClinVar Variation Id: 1991793
ClinVar RCV Id: RCV002776407
dbSNP Id: rs771566525
ExAC: X:47487032 C / T
gnomAD v2: X-47487032-C-T
gnomAD v3: X-47627633-C-T
gnomAD v4: X-47627633-C-T
MyVariant Identifiers: chrX:g.47487032C>T (hg19) chrX:g.47627633C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627633C>T , CM000685.2:g.47627633C>T GRCh38
NC_000023.10:g.47487032C>T , CM000685.1:g.47487032C>T GRCh37
NC_000023.9:g.47371976C>T NCBI36
NG_009893.1:g.7673G>A , LRG_129:g.7673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396992.8:c.412G>A MANE Select ENSP00000380189.3:p.Gly138Ser
ENST00000640573.1:n.650G>A
ENST00000247153.7:c.412G>A ENSP00000247153.3:p.Gly138Ser
ENST00000377005.6:c.412G>A ENSP00000366204.2:p.Gly138Ser
ENST00000396992.7:c.412G>A ENSP00000380189.3:p.Gly138Ser
ENST00000469388.1:c.7G>A ENSP00000418258.1:p.Gly3Ser
ENST00000485991.5:n.1709G>A
NM_001145252.1:c.412G>A NP_001138724.1:p.Gly138Ser
NM_002621.2:c.412G>A , LRG_129t1:c.412G>A NP_002612.1:p.Gly138Ser
XM_017029575.1:c.7G>A XP_016885064.1:p.Gly3Ser
NM_001145252.3:c.412G>A MANE Select NP_001138724.1:p.Gly138Ser
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