Canonical Allele Identifier: CA412838787

Gene: CFP

Linked Data

• MyVariant Identifiers: chrX:g.47487002A>C (hg19) ; chrX:g.47627603A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47627603A>C , CM000685.2:g.47627603A>C	GRCh38
NC_000023.10:g.47487002A>C , CM000685.1:g.47487002A>C	GRCh37
NC_000023.9:g.47371946A>C	NCBI36
NG_009893.1:g.7703T>G , LRG_129:g.7703T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396992.8:c.442T>G MANE Select	ENSP00000380189.3:p.Cys148Gly
ENST00000640573.1:n.680T>G
ENST00000247153.7:c.442T>G	ENSP00000247153.3:p.Cys148Gly
ENST00000377005.6:c.442T>G	ENSP00000366204.2:p.Cys148Gly
ENST00000396992.7:c.442T>G	ENSP00000380189.3:p.Cys148Gly
ENST00000469388.1:c.37T>G	ENSP00000418258.1:p.Cys13Gly
ENST00000485991.5:n.1739T>G
NM_001145252.1:c.442T>G	NP_001138724.1:p.Cys148Gly
NM_002621.2:c.442T>G , LRG_129t1:c.442T>G	NP_002612.1:p.Cys148Gly
XM_017029575.1:c.37T>G	XP_016885064.1:p.Cys13Gly
NM_001145252.3:c.442T>G MANE Select	NP_001138724.1:p.Cys148Gly