Canonical Allele Identifier: CA348502402

Gene: CFC1

Linked Data

• gnomAD v4: 2-130592960-C-A
• MyVariant Identifiers: chr2:g.131350533C>A (hg19) ; chr2:g.130592960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592960C>A , CM000664.2:g.130592960C>A	GRCh38
NC_000002.11:g.131350533C>A , CM000664.1:g.131350533C>A	GRCh37
NC_000002.10:g.131067003C>A	NCBI36
NG_008148.1:g.11550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.589G>T MANE Select	ENSP00000259216.5:p.Ala197Ser
ENST00000259216.4:c.589G>T	ENSP00000259216.4:p.Ala197Ser
ENST00000615342.4:c.474G>T	ENSP00000480526.1:p.Pro158=
ENST00000621673.4:c.364G>T	ENSP00000480843.1:p.Ala122Ser
NM_001270420.1:c.474G>T	NP_001257349.1:p.Pro158=
NM_001270421.1:c.364G>T	NP_001257350.1:p.Ala122Ser
NM_032545.3:c.589G>T	NP_115934.1:p.Ala197Ser
NM_032545.4:c.589G>T MANE Select	NP_115934.1:p.Ala197Ser
NM_001270420.2:c.474G>T	NP_001257349.1:p.Pro158=
NM_001270421.2:c.364G>T	NP_001257350.1:p.Ala122Ser