Canonical Allele Identifier: CA412838592

Gene: CFP

Linked Data

• MyVariant Identifiers: chrX:g.47486911G>C (hg19) ; chrX:g.47627512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627512G>C , CM000685.2:g.47627512G>C	GRCh38
NC_000023.10:g.47486911G>C , CM000685.1:g.47486911G>C	GRCh37
NC_000023.9:g.47371855G>C	NCBI36
NG_009893.1:g.7794C>G , LRG_129:g.7794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.533C>G MANE Select	ENSP00000380189.3:p.Ala178Gly
ENST00000640573.1:n.771C>G
ENST00000247153.7:c.533C>G	ENSP00000247153.3:p.Ala178Gly
ENST00000377005.6:c.533C>G	ENSP00000366204.2:p.Ala178Gly
ENST00000396992.7:c.533C>G	ENSP00000380189.3:p.Ala178Gly
ENST00000469388.1:c.128C>G	ENSP00000418258.1:p.Ala43Gly
ENST00000485991.5:n.1830C>G
NM_001145252.1:c.533C>G	NP_001138724.1:p.Ala178Gly
NM_002621.2:c.533C>G , LRG_129t1:c.533C>G	NP_002612.1:p.Ala178Gly
XM_017029575.1:c.128C>G	XP_016885064.1:p.Ala43Gly
NM_001145252.3:c.533C>G MANE Select	NP_001138724.1:p.Ala178Gly