Canonical Allele Identifier: CA2693589499
Gene: CFP HGNC NCBI

Linked Data

gnomAD v4: X-47627739-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627739A>C , CM000685.2:g.47627739A>C GRCh38
NC_000023.10:g.47487138A>C , CM000685.1:g.47487138A>C GRCh37
NC_000023.9:g.47372082A>C NCBI36
NG_009893.1:g.7567T>G , LRG_129:g.7567T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396992.8:c.404-98T>G MANE Select ENSP00000380189.3:n.404-98T>G
ENST00000640573.1:n.642-98T>G
ENST00000247153.7:c.404-98T>G ENSP00000247153.3:n.404-98T>G
ENST00000377005.6:c.404-98T>G ENSP00000366204.2:n.404-98T>G
ENST00000396992.7:c.404-98T>G ENSP00000380189.3:n.404-98T>G
ENST00000469388.1:c.-2-98T>G ENSP00000418258.1:n.-2-98T>G
ENST00000485991.5:n.1701-98T>G
NM_001145252.1:c.404-98T>G NP_001138724.1:n.404-98T>G
NM_002621.2:c.404-98T>G , LRG_129t1:c.404-98T>G NP_002612.1:n.404-98T>G
XM_017029575.1:c.-2-98T>G XP_016885064.1:n.-2-98T>G
NM_001145252.3:c.404-98T>G MANE Select NP_001138724.1:n.404-98T>G