Canonical Allele Identifier: CA536070248

Gene: CFC1

Linked Data

• dbSNP Id: rs1286806695
• gnomAD v2: 2-131350421-A-G
• gnomAD v4: 2-130592848-A-G
• MyVariant Identifiers: chr2:g.131350421A>G (hg19) ; chr2:g.130592848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592848A>G , CM000664.2:g.130592848A>G	GRCh38
NC_000002.11:g.131350421A>G , CM000664.1:g.131350421A>G	GRCh37
NC_000002.10:g.131066891A>G	NCBI36
NG_008148.1:g.11662T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.*29T>C MANE Select	ENSP00000259216.5:n.*29T>C
ENST00000259216.4:c.*29T>C	ENSP00000259216.4:n.*29T>C
ENST00000615342.4:c.*10T>C	ENSP00000480526.1:n.*10T>C
ENST00000621673.4:c.*29T>C	ENSP00000480843.1:n.*29T>C
NM_001270420.1:c.*10T>C	NP_001257349.1:n.*10T>C
NM_001270421.1:c.*29T>C	NP_001257350.1:n.*29T>C
NM_032545.3:c.*29T>C	NP_115934.1:n.*29T>C
NM_032545.4:c.*29T>C MANE Select	NP_115934.1:n.*29T>C
NM_001270420.2:c.*10T>C	NP_001257349.1:n.*10T>C
NM_001270421.2:c.*29T>C	NP_001257350.1:n.*29T>C