Canonical Allele Identifier: CA348502335

Gene: CFC1

Linked Data

• gnomAD v3: 2-130592936-A-G
• gnomAD v4: 2-130592936-A-G
• MyVariant Identifiers: chr2:g.131350509A>G (hg19) ; chr2:g.130592936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592936A>G , CM000664.2:g.130592936A>G	GRCh38
NC_000002.11:g.131350509A>G , CM000664.1:g.131350509A>G	GRCh37
NC_000002.10:g.131066979A>G	NCBI36
NG_008148.1:g.11574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.613T>C MANE Select	ENSP00000259216.5:p.Ser205Pro
ENST00000259216.4:c.613T>C	ENSP00000259216.4:p.Ser205Pro
ENST00000615342.4:c.498T>C	ENSP00000480526.1:p.Leu166=
ENST00000621673.4:c.388T>C	ENSP00000480843.1:p.Ser130Pro
NM_001270420.1:c.498T>C	NP_001257349.1:p.Leu166=
NM_001270421.1:c.388T>C	NP_001257350.1:p.Ser130Pro
NM_032545.3:c.613T>C	NP_115934.1:p.Ser205Pro
NM_032545.4:c.613T>C MANE Select	NP_115934.1:p.Ser205Pro
NM_001270420.2:c.498T>C	NP_001257349.1:p.Leu166=
NM_001270421.2:c.388T>C	NP_001257350.1:p.Ser130Pro