Canonical Allele Identifier: CA348502927

Gene: CFC1

Linked Data

• gnomAD v4: 2-130593052-T-G
• MyVariant Identifiers: chr2:g.131350625T>G (hg19) ; chr2:g.130593052T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130593052T>G , CM000664.2:g.130593052T>G	GRCh38
NC_000002.11:g.131350625T>G , CM000664.1:g.131350625T>G	GRCh37
NC_000002.10:g.131067095T>G	NCBI36
NG_008148.1:g.11458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.497A>C MANE Select	ENSP00000259216.5:p.His166Pro
ENST00000259216.4:c.497A>C	ENSP00000259216.4:p.His166Pro
ENST00000615342.4:c.382A>C	ENSP00000480526.1:p.Thr128Pro
ENST00000621673.4:c.272A>C	ENSP00000480843.1:p.His91Pro
NM_001270420.1:c.382A>C	NP_001257349.1:p.Thr128Pro
NM_001270421.1:c.272A>C	NP_001257350.1:p.His91Pro
NM_032545.3:c.497A>C	NP_115934.1:p.His166Pro
NM_032545.4:c.497A>C MANE Select	NP_115934.1:p.His166Pro
NM_001270420.2:c.382A>C	NP_001257349.1:p.Thr128Pro
NM_001270421.2:c.272A>C	NP_001257350.1:p.His91Pro