Canonical Allele Identifier: CA348502541

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350559T>G (hg19) ; chr2:g.130592986T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592986T>G , CM000664.2:g.130592986T>G	GRCh38
NC_000002.11:g.131350559T>G , CM000664.1:g.131350559T>G	GRCh37
NC_000002.10:g.131067029T>G	NCBI36
NG_008148.1:g.11524A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.563A>C MANE Select	ENSP00000259216.5:p.His188Pro
ENST00000259216.4:c.563A>C	ENSP00000259216.4:p.His188Pro
ENST00000615342.4:c.448A>C	ENSP00000480526.1:p.Thr150Pro
ENST00000621673.4:c.338A>C	ENSP00000480843.1:p.His113Pro
NM_001270420.1:c.448A>C	NP_001257349.1:p.Thr150Pro
NM_001270421.1:c.338A>C	NP_001257350.1:p.His113Pro
NM_032545.3:c.563A>C	NP_115934.1:p.His188Pro
NM_032545.4:c.563A>C MANE Select	NP_115934.1:p.His188Pro
NM_001270420.2:c.448A>C	NP_001257349.1:p.Thr150Pro
NM_001270421.2:c.338A>C	NP_001257350.1:p.His113Pro