Canonical Allele Identifier: CA10398952
Gene: CFP HGNC NCBI

Linked Data

ClinVar Variation Id: 973631
ClinVar RCV Id: RCV001267752 RCV001879775
dbSNP Id: rs200131215
ExAC: X:47486968 C / T
gnomAD v2: X-47486968-C-T
gnomAD v3: X-47627569-C-T
gnomAD v4: X-47627569-C-T
MyVariant Identifiers: chrX:g.47486968C>T (hg19) chrX:g.47627569C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627569C>T , CM000685.2:g.47627569C>T GRCh38
NC_000023.10:g.47486968C>T , CM000685.1:g.47486968C>T GRCh37
NC_000023.9:g.47371912C>T NCBI36
NG_009893.1:g.7737G>A , LRG_129:g.7737G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396992.8:c.476G>A MANE Select ENSP00000380189.3:p.Arg159His
ENST00000640573.1:n.714G>A
ENST00000247153.7:c.476G>A ENSP00000247153.3:p.Arg159His
ENST00000377005.6:c.476G>A ENSP00000366204.2:p.Arg159His
ENST00000396992.7:c.476G>A ENSP00000380189.3:p.Arg159His
ENST00000469388.1:c.71G>A ENSP00000418258.1:p.Arg24His
ENST00000485991.5:n.1773G>A
NM_001145252.1:c.476G>A NP_001138724.1:p.Arg159His
NM_002621.2:c.476G>A , LRG_129t1:c.476G>A NP_002612.1:p.Arg159His
XM_017029575.1:c.71G>A XP_016885064.1:p.Arg24His
NM_001145252.3:c.476G>A MANE Select NP_001138724.1:p.Arg159His
Search 100 bp 5'
Search 100 bp 3'