Canonical Allele Identifier: CA348502375

Gene: CFC1

Linked Data

• MyVariant Identifiers: chr2:g.131350523C>A (hg19) ; chr2:g.130592950C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000259216.6:c.599G>T MANE Select	ENSP00000259216.5:p.Arg200Leu
ENST00000259216.4:c.599G>T	ENSP00000259216.4:p.Arg200Leu
ENST00000615342.4:c.484G>T	ENSP00000480526.1:p.Gly162Cys
ENST00000621673.4:c.374G>T	ENSP00000480843.1:p.Arg125Leu
NM_001270420.1:c.484G>T	NP_001257349.1:p.Gly162Cys
NM_001270421.1:c.374G>T	NP_001257350.1:p.Arg125Leu
NM_032545.3:c.599G>T	NP_115934.1:p.Arg200Leu
NM_032545.4:c.599G>T MANE Select	NP_115934.1:p.Arg200Leu
NM_001270420.2:c.484G>T	NP_001257349.1:p.Gly162Cys
NM_001270421.2:c.374G>T	NP_001257350.1:p.Arg125Leu