Canonical Allele Identifier: CA10398947
Gene: CFP HGNC NCBI

Linked Data

ClinVar Variation Id: 1502159
ClinVar RCV Id: RCV002020098
dbSNP Id: rs376333570
ExAC: X:47486914 T / C
gnomAD v2: X-47486914-T-C
gnomAD v3: X-47627515-T-C
gnomAD v4: X-47627515-T-C
MyVariant Identifiers: chrX:g.47486914T>C (hg19) chrX:g.47627515T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627515T>C , CM000685.2:g.47627515T>C GRCh38
NC_000023.10:g.47486914T>C , CM000685.1:g.47486914T>C GRCh37
NC_000023.9:g.47371858T>C NCBI36
NG_009893.1:g.7791A>G , LRG_129:g.7791A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396992.8:c.530A>G MANE Select ENSP00000380189.3:p.Gln177Arg
ENST00000640573.1:n.768A>G
ENST00000247153.7:c.530A>G ENSP00000247153.3:p.Gln177Arg
ENST00000377005.6:c.530A>G ENSP00000366204.2:p.Gln177Arg
ENST00000396992.7:c.530A>G ENSP00000380189.3:p.Gln177Arg
ENST00000469388.1:c.125A>G ENSP00000418258.1:p.Gln42Arg
ENST00000485991.5:n.1827A>G
NM_001145252.1:c.530A>G NP_001138724.1:p.Gln177Arg
NM_002621.2:c.530A>G , LRG_129t1:c.530A>G NP_002612.1:p.Gln177Arg
XM_017029575.1:c.125A>G XP_016885064.1:p.Gln42Arg
NM_001145252.3:c.530A>G MANE Select NP_001138724.1:p.Gln177Arg
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