Canonical Allele Identifier: CA348502130

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350438C>A (hg19) ; chr2:g.130592865C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592865C>A , CM000664.2:g.130592865C>A	GRCh38
NC_000002.11:g.131350438C>A , CM000664.1:g.131350438C>A	GRCh37
NC_000002.10:g.131066908C>A	NCBI36
NG_008148.1:g.11645G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*12G>T MANE Select	ENSP00000259216.5:n.*12G>T
ENST00000259216.4:c.*12G>T	ENSP00000259216.4:n.*12G>T
ENST00000615342.4:c.569G>T	ENSP00000480526.1:p.Cys190Phe
ENST00000621673.4:c.*12G>T	ENSP00000480843.1:n.*12G>T
NM_001270420.1:c.569G>T	NP_001257349.1:p.Cys190Phe
NM_001270421.1:c.*12G>T	NP_001257350.1:n.*12G>T
NM_032545.3:c.*12G>T	NP_115934.1:n.*12G>T
NM_032545.4:c.*12G>T MANE Select	NP_115934.1:n.*12G>T
NM_001270420.2:c.569G>T	NP_001257349.1:p.Cys190Phe
NM_001270421.2:c.*12G>T	NP_001257350.1:n.*12G>T