Canonical Allele Identifier: CA121391
Gene: CFP HGNC NCBI

Linked Data

ClinVar Variation Id: 11181
ClinVar RCV Id: RCV000011931
dbSNP Id: rs132630258
MyVariant Identifiers: chrX:g.47486963G>A (hg19) chrX:g.47627564G>A (hg38)
PubMed: PMID:7151327 PMID:8530058
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627564G>A , CM000685.2:g.47627564G>A GRCh38
NC_000023.10:g.47486963G>A , CM000685.1:g.47486963G>A GRCh37
NC_000023.9:g.47371907G>A NCBI36
NG_009893.1:g.7742C>T , LRG_129:g.7742C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396992.8:c.481C>T MANE Select ENSP00000380189.3:p.Arg161Ter
ENST00000640573.1:n.719C>T
ENST00000247153.7:c.481C>T ENSP00000247153.3:p.Arg161Ter
ENST00000377005.6:c.481C>T ENSP00000366204.2:p.Arg161Ter
ENST00000396992.7:c.481C>T ENSP00000380189.3:p.Arg161Ter
ENST00000469388.1:c.76C>T ENSP00000418258.1:p.Arg26Ter
ENST00000485991.5:n.1778C>T
NM_001145252.1:c.481C>T NP_001138724.1:p.Arg161Ter
NM_002621.2:c.481C>T , LRG_129t1:c.481C>T NP_002612.1:p.Arg161Ter
XM_017029575.1:c.76C>T XP_016885064.1:p.Arg26Ter
NM_001145252.3:c.481C>T MANE Select NP_001138724.1:p.Arg161Ter
Search 100 bp 5'
Search 100 bp 3'