Canonical Allele Identifier: CA348502374

Gene: CFC1

Linked Data

• dbSNP Id: rs1254902351
• gnomAD v3: 2-130592950-C-G
• gnomAD v4: 2-130592950-C-G
• MyVariant Identifiers: chr2:g.131350523C>G (hg19) ; chr2:g.130592950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592950C>G , CM000664.2:g.130592950C>G	GRCh38
NC_000002.11:g.131350523C>G , CM000664.1:g.131350523C>G	GRCh37
NC_000002.10:g.131066993C>G	NCBI36
NG_008148.1:g.11560G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.599G>C MANE Select	ENSP00000259216.5:p.Arg200Pro
ENST00000259216.4:c.599G>C	ENSP00000259216.4:p.Arg200Pro
ENST00000615342.4:c.484G>C	ENSP00000480526.1:p.Gly162Arg
ENST00000621673.4:c.374G>C	ENSP00000480843.1:p.Arg125Pro
NM_001270420.1:c.484G>C	NP_001257349.1:p.Gly162Arg
NM_001270421.1:c.374G>C	NP_001257350.1:p.Arg125Pro
NM_032545.3:c.599G>C	NP_115934.1:p.Arg200Pro
NM_032545.4:c.599G>C MANE Select	NP_115934.1:p.Arg200Pro
NM_001270420.2:c.484G>C	NP_001257349.1:p.Gly162Arg
NM_001270421.2:c.374G>C	NP_001257350.1:p.Arg125Pro