Canonical Allele Identifier: CA348502377

Gene: CFC1

Linked Data

• dbSNP Id: rs1421502841
• gnomAD v3: 2-130592951-G-A
• gnomAD v4: 2-130592951-G-A
• MyVariant Identifiers: chr2:g.131350524G>A (hg19) ; chr2:g.130592951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592951G>A , CM000664.2:g.130592951G>A	GRCh38
NC_000002.11:g.131350524G>A , CM000664.1:g.131350524G>A	GRCh37
NC_000002.10:g.131066994G>A	NCBI36
NG_008148.1:g.11559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.598C>T MANE Select	ENSP00000259216.5:p.Arg200Trp
ENST00000259216.4:c.598C>T	ENSP00000259216.4:p.Arg200Trp
ENST00000615342.4:c.483C>T	ENSP00000480526.1:p.Leu161=
ENST00000621673.4:c.373C>T	ENSP00000480843.1:p.Arg125Trp
NM_001270420.1:c.483C>T	NP_001257349.1:p.Leu161=
NM_001270421.1:c.373C>T	NP_001257350.1:p.Arg125Trp
NM_032545.3:c.598C>T	NP_115934.1:p.Arg200Trp
NM_032545.4:c.598C>T MANE Select	NP_115934.1:p.Arg200Trp
NM_001270420.2:c.483C>T	NP_001257349.1:p.Leu161=
NM_001270421.2:c.373C>T	NP_001257350.1:p.Arg125Trp