Canonical Allele Identifier: CA348502160

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350450T>C (hg19) ; chr2:g.130592877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592877T>C , CM000664.2:g.130592877T>C	GRCh38
NC_000002.11:g.131350450T>C , CM000664.1:g.131350450T>C	GRCh37
NC_000002.10:g.131066920T>C	NCBI36
NG_008148.1:g.11633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.672A>G MANE Select	ENSP00000259216.5:p.Ter224=
ENST00000259216.4:c.672A>G	ENSP00000259216.4:p.Ter224=
ENST00000615342.4:c.557A>G	ENSP00000480526.1:p.Asn186Ser
ENST00000621673.4:c.447A>G	ENSP00000480843.1:p.Ter149=
NM_001270420.1:c.557A>G	NP_001257349.1:p.Asn186Ser
NM_001270421.1:c.447A>G	NP_001257350.1:p.Ter149=
NM_032545.3:c.672A>G	NP_115934.1:p.Ter224=
NM_032545.4:c.672A>G MANE Select	NP_115934.1:p.Ter224=
NM_001270420.2:c.557A>G	NP_001257349.1:p.Asn186Ser
NM_001270421.2:c.447A>G	NP_001257350.1:p.Ter149=