Canonical Allele Identifier: CA290043

Gene: CFC1

Linked Data

• ClinVar Variation Id: 136731
• ClinVar RCV Id: RCV000124251 ; RCV000420471
• dbSNP Id: rs199607550
• ExAC: 2:131356495 T / G
• gnomAD v2: 2-131356495-T-G
• gnomAD v3: 2-130598922-T-G
• gnomAD v4: 2-130598922-T-G
• MyVariant Identifiers: chr2:g.131356495T>G (hg19) ; chr2:g.130598922T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130598922T>G , CM000664.2:g.130598922T>G	GRCh38
NC_000002.11:g.131356495T>G , CM000664.1:g.131356495T>G	GRCh37
NC_000002.10:g.131072965T>G	NCBI36
NG_008148.1:g.5588A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.61A>C MANE Select	ENSP00000259216.5:p.Asn21His
ENST00000259216.4:c.61A>C	ENSP00000259216.4:p.Asn21His
ENST00000615342.4:c.61A>C	ENSP00000480526.1:p.Asn21His
ENST00000621673.4:c.61A>C	ENSP00000480843.1:p.Asn21His
NM_001270420.1:c.61A>C	NP_001257349.1:p.Asn21His
NM_001270421.1:c.61A>C	NP_001257350.1:p.Asn21His
NM_032545.3:c.61A>C	NP_115934.1:p.Asn21His
XM_011511486.1:c.61A>C	XP_011509788.1:p.Asn21His
XM_011511486.3:c.61A>C	XP_011509788.1:p.Asn21His
NM_032545.4:c.61A>C MANE Select	NP_115934.1:p.Asn21His
NM_001270420.2:c.61A>C	NP_001257349.1:p.Asn21His
NM_001270421.2:c.61A>C	NP_001257350.1:p.Asn21His