Canonical Allele Identifier: CA281555

Gene: CFC1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130597896G>A , CM000664.2:g.130597896G>A	GRCh38
NC_000002.11:g.131355469G>A , CM000664.1:g.131355469G>A	GRCh37
NC_000002.10:g.131071939G>A	NCBI36
NG_008148.1:g.6614C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032545.4:c.334C>T MANE Select	NP_115934.1:p.Arg112Cys
ENST00000259216.6:c.334C>T MANE Select	ENSP00000259216.5:p.Arg112Cys
NM_001270420.1:c.248-293C>T	NP_001257349.1:n.248-293C>T
NM_001270420.2:c.248-293C>T	NP_001257349.1:n.248-293C>T
NM_001270421.1:c.247+746C>T	NP_001257350.1:n.247+746C>T
NM_001270421.2:c.247+746C>T	NP_001257350.1:n.247+746C>T
NM_032545.3:c.334C>T	NP_115934.1:p.Arg112Cys
ENST00000259216.4:c.334C>T	ENSP00000259216.4:p.Arg112Cys
ENST00000615342.4:c.248-293C>T	ENSP00000480526.1:n.248-293C>T
ENST00000621673.4:c.247+746C>T	ENSP00000480843.1:n.247+746C>T