Canonical Allele Identifier: CA348502378

Gene: CFC1

Linked Data

• dbSNP Id: rs1183543958
• gnomAD v2: 2-131350525-A-C
• gnomAD v4: 2-130592952-A-C
• MyVariant Identifiers: chr2:g.131350525A>C (hg19) ; chr2:g.130592952A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592952A>C , CM000664.2:g.130592952A>C	GRCh38
NC_000002.11:g.131350525A>C , CM000664.1:g.131350525A>C	GRCh37
NC_000002.10:g.131066995A>C	NCBI36
NG_008148.1:g.11558T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.597T>G MANE Select	ENSP00000259216.5:p.Pro199=
ENST00000259216.4:c.597T>G	ENSP00000259216.4:p.Pro199=
ENST00000615342.4:c.482T>G	ENSP00000480526.1:p.Leu161Arg
ENST00000621673.4:c.372T>G	ENSP00000480843.1:p.Pro124=
NM_001270420.1:c.482T>G	NP_001257349.1:p.Leu161Arg
NM_001270421.1:c.372T>G	NP_001257350.1:p.Pro124=
NM_032545.3:c.597T>G	NP_115934.1:p.Pro199=
NM_032545.4:c.597T>G MANE Select	NP_115934.1:p.Pro199=
NM_001270420.2:c.482T>G	NP_001257349.1:p.Leu161Arg
NM_001270421.2:c.372T>G	NP_001257350.1:p.Pro124=