Canonical Allele Identifier: CA348502368

Gene: CFC1

Linked Data

• dbSNP Id: rs1684853409
• gnomAD v4: 2-130592948-A-C
• MyVariant Identifiers: chr2:g.131350521A>C (hg19) ; chr2:g.130592948A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592948A>C , CM000664.2:g.130592948A>C	GRCh38
NC_000002.11:g.131350521A>C , CM000664.1:g.131350521A>C	GRCh37
NC_000002.10:g.131066991A>C	NCBI36
NG_008148.1:g.11562T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.601T>G MANE Select	ENSP00000259216.5:p.Ser201Ala
ENST00000259216.4:c.601T>G	ENSP00000259216.4:p.Ser201Ala
ENST00000615342.4:c.486T>G	ENSP00000480526.1:p.Gly162=
ENST00000621673.4:c.376T>G	ENSP00000480843.1:p.Ser126Ala
NM_001270420.1:c.486T>G	NP_001257349.1:p.Gly162=
NM_001270421.1:c.376T>G	NP_001257350.1:p.Ser126Ala
NM_032545.3:c.601T>G	NP_115934.1:p.Ser201Ala
NM_032545.4:c.601T>G MANE Select	NP_115934.1:p.Ser201Ala
NM_001270420.2:c.486T>G	NP_001257349.1:p.Gly162=
NM_001270421.2:c.376T>G	NP_001257350.1:p.Ser126Ala