Canonical Allele Identifier: CA412838667
Gene: CFP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627546C>T , CM000685.2:g.47627546C>T GRCh38
NC_000023.10:g.47486945C>T , CM000685.1:g.47486945C>T GRCh37
NC_000023.9:g.47371889C>T NCBI36
NG_009893.1:g.7760G>A , LRG_129:g.7760G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396992.8:c.499G>A MANE Select ENSP00000380189.3:p.Ala167Thr
ENST00000640573.1:n.737G>A
ENST00000247153.7:c.499G>A ENSP00000247153.3:p.Ala167Thr
ENST00000377005.6:c.499G>A ENSP00000366204.2:p.Ala167Thr
ENST00000396992.7:c.499G>A ENSP00000380189.3:p.Ala167Thr
ENST00000469388.1:c.94G>A ENSP00000418258.1:p.Ala32Thr
ENST00000485991.5:n.1796G>A
NM_001145252.1:c.499G>A NP_001138724.1:p.Ala167Thr
NM_002621.2:c.499G>A , LRG_129t1:c.499G>A NP_002612.1:p.Ala167Thr
XM_017029575.1:c.94G>A XP_016885064.1:p.Ala32Thr
NM_001145252.3:c.499G>A MANE Select NP_001138724.1:p.Ala167Thr