Canonical Allele Identifier: CA348502359

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350517A>T (hg19) ; chr2:g.130592944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592944A>T , CM000664.2:g.130592944A>T	GRCh38
NC_000002.11:g.131350517A>T , CM000664.1:g.131350517A>T	GRCh37
NC_000002.10:g.131066987A>T	NCBI36
NG_008148.1:g.11566T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.605T>A MANE Select	ENSP00000259216.5:p.Leu202Gln
ENST00000259216.4:c.605T>A	ENSP00000259216.4:p.Leu202Gln
ENST00000615342.4:c.490T>A	ENSP00000480526.1:p.Trp164Arg
ENST00000621673.4:c.380T>A	ENSP00000480843.1:p.Leu127Gln
NM_001270420.1:c.490T>A	NP_001257349.1:p.Trp164Arg
NM_001270421.1:c.380T>A	NP_001257350.1:p.Leu127Gln
NM_032545.3:c.605T>A	NP_115934.1:p.Leu202Gln
NM_032545.4:c.605T>A MANE Select	NP_115934.1:p.Leu202Gln
NM_001270420.2:c.490T>A	NP_001257349.1:p.Trp164Arg
NM_001270421.2:c.380T>A	NP_001257350.1:p.Leu127Gln