Canonical Allele Identifier: CA348502251

Gene: CFC1

Linked Data

• dbSNP Id: rs1418793784
• gnomAD v2: 2-131350480-G-A
• gnomAD v4: 2-130592907-G-A
• MyVariant Identifiers: chr2:g.131350480G>A (hg19) ; chr2:g.130592907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592907G>A , CM000664.2:g.130592907G>A	GRCh38
NC_000002.11:g.131350480G>A , CM000664.1:g.131350480G>A	GRCh37
NC_000002.10:g.131066950G>A	NCBI36
NG_008148.1:g.11603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.642C>T MANE Select	ENSP00000259216.5:p.Cys214=
ENST00000259216.4:c.642C>T	ENSP00000259216.4:p.Cys214=
ENST00000615342.4:c.527C>T	ENSP00000480526.1:p.Ala176Val
ENST00000621673.4:c.417C>T	ENSP00000480843.1:p.Cys139=
NM_001270420.1:c.527C>T	NP_001257349.1:p.Ala176Val
NM_001270421.1:c.417C>T	NP_001257350.1:p.Cys139=
NM_032545.3:c.642C>T	NP_115934.1:p.Cys214=
NM_032545.4:c.642C>T MANE Select	NP_115934.1:p.Cys214=
NM_001270420.2:c.527C>T	NP_001257349.1:p.Ala176Val
NM_001270421.2:c.417C>T	NP_001257350.1:p.Cys139=