Canonical Allele Identifier: CA348502315
Gene: CFC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592929A>C , CM000664.2:g.130592929A>C GRCh38
NC_000002.11:g.131350502A>C , CM000664.1:g.131350502A>C GRCh37
NC_000002.10:g.131066972A>C NCBI36
NG_008148.1:g.11581T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259216.6:c.620T>G MANE Select ENSP00000259216.5:p.Leu207Arg
ENST00000259216.4:c.620T>G ENSP00000259216.4:p.Leu207Arg
ENST00000615342.4:c.505T>G ENSP00000480526.1:p.Ser169Ala
ENST00000621673.4:c.395T>G ENSP00000480843.1:p.Leu132Arg
NM_001270420.1:c.505T>G NP_001257349.1:p.Ser169Ala
NM_001270421.1:c.395T>G NP_001257350.1:p.Leu132Arg
NM_032545.3:c.620T>G NP_115934.1:p.Leu207Arg
NM_032545.4:c.620T>G MANE Select NP_115934.1:p.Leu207Arg
NM_001270420.2:c.505T>G NP_001257349.1:p.Ser169Ala
NM_001270421.2:c.395T>G NP_001257350.1:p.Leu132Arg