Canonical Allele Identifier: CA516354322
Gene: CFP HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.47486982T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47627583T>C , CM000685.2:g.47627583T>C GRCh38
NC_000023.10:g.47486982T>C , CM000685.1:g.47486982T>C GRCh37
NC_000023.9:g.47371926T>C NCBI36
NG_009893.1:g.7723A>G , LRG_129:g.7723A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396992.8:c.462A>G MANE Select ENSP00000380189.3:p.Lys154=
ENST00000640573.1:n.700A>G
ENST00000247153.7:c.462A>G ENSP00000247153.3:p.Lys154=
ENST00000377005.6:c.462A>G ENSP00000366204.2:p.Lys154=
ENST00000396992.7:c.462A>G ENSP00000380189.3:p.Lys154=
ENST00000469388.1:c.57A>G ENSP00000418258.1:p.Lys19=
ENST00000485991.5:n.1759A>G
NM_001145252.1:c.462A>G NP_001138724.1:p.Lys154=
NM_002621.2:c.462A>G , LRG_129t1:c.462A>G NP_002612.1:p.Lys154=
XM_017029575.1:c.57A>G XP_016885064.1:p.Lys19=
NM_001145252.3:c.462A>G MANE Select NP_001138724.1:p.Lys154=