Canonical Allele Identifier: CA348502924

Gene: CFC1

Linked Data

• dbSNP Id: rs1257097436
• gnomAD v3: 2-130593051-G-T
• gnomAD v4: 2-130593051-G-T
• MyVariant Identifiers: chr2:g.131350624G>T (hg19) ; chr2:g.130593051G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130593051G>T , CM000664.2:g.130593051G>T	GRCh38
NC_000002.11:g.131350624G>T , CM000664.1:g.131350624G>T	GRCh37
NC_000002.10:g.131067094G>T	NCBI36
NG_008148.1:g.11459C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.498C>A MANE Select	ENSP00000259216.5:p.His166Gln
ENST00000259216.4:c.498C>A	ENSP00000259216.4:p.His166Gln
ENST00000615342.4:c.383C>A	ENSP00000480526.1:p.Thr128Lys
ENST00000621673.4:c.273C>A	ENSP00000480843.1:p.His91Gln
NM_001270420.1:c.383C>A	NP_001257349.1:p.Thr128Lys
NM_001270421.1:c.273C>A	NP_001257350.1:p.His91Gln
NM_032545.3:c.498C>A	NP_115934.1:p.His166Gln
NM_032545.4:c.498C>A MANE Select	NP_115934.1:p.His166Gln
NM_001270420.2:c.383C>A	NP_001257349.1:p.Thr128Lys
NM_001270421.2:c.273C>A	NP_001257350.1:p.His91Gln