Canonical Allele Identifier: CA348502303

Gene: CFC1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.624G>T MANE Select	ENSP00000259216.5:p.Gln208His
ENST00000259216.4:c.624G>T	ENSP00000259216.4:p.Gln208His
ENST00000615342.4:c.509G>T	ENSP00000480526.1:p.Ser170Ile
ENST00000621673.4:c.399G>T	ENSP00000480843.1:p.Gln133His
NM_001270420.1:c.509G>T	NP_001257349.1:p.Ser170Ile
NM_001270421.1:c.399G>T	NP_001257350.1:p.Gln133His
NM_032545.3:c.624G>T	NP_115934.1:p.Gln208His
NM_032545.4:c.624G>T MANE Select	NP_115934.1:p.Gln208His
NM_001270420.2:c.509G>T	NP_001257349.1:p.Ser170Ile
NM_001270421.2:c.399G>T	NP_001257350.1:p.Gln133His