Canonical Allele Identifier: CA348502372

Gene: CFC1

Linked Data

• gnomAD v4: 2-130592949-C-T
• MyVariant Identifiers: chr2:g.131350522C>T (hg19) ; chr2:g.130592949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592949C>T , CM000664.2:g.130592949C>T	GRCh38
NC_000002.11:g.131350522C>T , CM000664.1:g.131350522C>T	GRCh37
NC_000002.10:g.131066992C>T	NCBI36
NG_008148.1:g.11561G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.600G>A MANE Select	ENSP00000259216.5:p.Arg200=
ENST00000259216.4:c.600G>A	ENSP00000259216.4:p.Arg200=
ENST00000615342.4:c.485G>A	ENSP00000480526.1:p.Gly162Asp
ENST00000621673.4:c.375G>A	ENSP00000480843.1:p.Arg125=
NM_001270420.1:c.485G>A	NP_001257349.1:p.Gly162Asp
NM_001270421.1:c.375G>A	NP_001257350.1:p.Arg125=
NM_032545.3:c.600G>A	NP_115934.1:p.Arg200=
NM_032545.4:c.600G>A MANE Select	NP_115934.1:p.Arg200=
NM_001270420.2:c.485G>A	NP_001257349.1:p.Gly162Asp
NM_001270421.2:c.375G>A	NP_001257350.1:p.Arg125=