Canonical Allele Identifier: CA348502304

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350498C>G (hg19) ; chr2:g.130592925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592925C>G , CM000664.2:g.130592925C>G	GRCh38
NC_000002.11:g.131350498C>G , CM000664.1:g.131350498C>G	GRCh37
NC_000002.10:g.131066968C>G	NCBI36
NG_008148.1:g.11585G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.624G>C MANE Select	ENSP00000259216.5:p.Gln208His
ENST00000259216.4:c.624G>C	ENSP00000259216.4:p.Gln208His
ENST00000615342.4:c.509G>C	ENSP00000480526.1:p.Ser170Thr
ENST00000621673.4:c.399G>C	ENSP00000480843.1:p.Gln133His
NM_001270420.1:c.509G>C	NP_001257349.1:p.Ser170Thr
NM_001270421.1:c.399G>C	NP_001257350.1:p.Gln133His
NM_032545.3:c.624G>C	NP_115934.1:p.Gln208His
NM_032545.4:c.624G>C MANE Select	NP_115934.1:p.Gln208His
NM_001270420.2:c.509G>C	NP_001257349.1:p.Ser170Thr
NM_001270421.2:c.399G>C	NP_001257350.1:p.Gln133His