Canonical Allele Identifier: CA348502330

Gene: CFC1

Linked Data

• gnomAD v4: 2-130592934-G-A
• COSMIC: COSM5813926
• MyVariant Identifiers: chr2:g.131350507G>A (hg19) ; chr2:g.130592934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.130592934G>A , CM000664.2:g.130592934G>A	GRCh38
NC_000002.11:g.131350507G>A , CM000664.1:g.131350507G>A	GRCh37
NC_000002.10:g.131066977G>A	NCBI36
NG_008148.1:g.11576C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259216.6:c.615C>T MANE Select	ENSP00000259216.5:p.Ser205=
ENST00000259216.4:c.615C>T	ENSP00000259216.4:p.Ser205=
ENST00000615342.4:c.500C>T	ENSP00000480526.1:p.Pro167Leu
ENST00000621673.4:c.390C>T	ENSP00000480843.1:p.Ser130=
NM_001270420.1:c.500C>T	NP_001257349.1:p.Pro167Leu
NM_001270421.1:c.390C>T	NP_001257350.1:p.Ser130=
NM_032545.3:c.615C>T	NP_115934.1:p.Ser205=
NM_032545.4:c.615C>T MANE Select	NP_115934.1:p.Ser205=
NM_001270420.2:c.500C>T	NP_001257349.1:p.Pro167Leu
NM_001270421.2:c.390C>T	NP_001257350.1:p.Ser130=