Canonical Allele Identifier: CA412838727
Gene: CFP HGNC NCBI

Linked Data

ClinVar Variation Id: 1470694
ClinVar RCV Id: RCV001964305
dbSNP Id: rs140986480
gnomAD v3: X-47627575-C-G
gnomAD v4: X-47627575-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627575C>G , CM000685.2:g.47627575C>G GRCh38
NC_000023.10:g.47486974C>G , CM000685.1:g.47486974C>G GRCh37
NC_000023.9:g.47371918C>G NCBI36
NG_009893.1:g.7731G>C , LRG_129:g.7731G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396992.8:c.470G>C MANE Select ENSP00000380189.3:p.Arg157Pro
ENST00000640573.1:n.708G>C
ENST00000247153.7:c.470G>C ENSP00000247153.3:p.Arg157Pro
ENST00000377005.6:c.470G>C ENSP00000366204.2:p.Arg157Pro
ENST00000396992.7:c.470G>C ENSP00000380189.3:p.Arg157Pro
ENST00000469388.1:c.65G>C ENSP00000418258.1:p.Arg22Pro
ENST00000485991.5:n.1767G>C
NM_001145252.1:c.470G>C NP_001138724.1:p.Arg157Pro
NM_002621.2:c.470G>C , LRG_129t1:c.470G>C NP_002612.1:p.Arg157Pro
XM_017029575.1:c.65G>C XP_016885064.1:p.Arg22Pro
NM_001145252.3:c.470G>C MANE Select NP_001138724.1:p.Arg157Pro