Canonical Allele Identifier: CA8851075

Gene: FASN

Linked Data

• ClinVar Variation Id: 531101
• ClinVar RCV Id: RCV000637211 ; RCV003905718
• dbSNP Id: rs138021210
• ExAC: 17:80037462 A / C
• gnomAD v2: 17-80037462-A-C
• gnomAD v3: 17-82079586-A-C
• gnomAD v4: 17-82079586-A-C
• MyVariant Identifiers: chr17:g.80037462A>C (hg19) ; chr17:g.82079586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82079586A>C , CM000679.2:g.82079586A>C	GRCh38
NC_000017.10:g.80037462A>C , CM000679.1:g.80037462A>C	GRCh37
NC_000017.9:g.77630751A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306749.4:c.7169T>G MANE Select	ENSP00000304592.2:p.Leu2390Arg
ENST00000306749.3:c.7169T>G	ENSP00000304592.2:p.Leu2390Arg
ENST00000578424.2:n.448T>G
ENST00000580382.1:c.339T>G
ENST00000584610.2:n.344T>G
ENST00000634990.1:c.7163T>G	ENSP00000488964.1:p.Leu2388Arg
NM_004104.4:c.7169T>G	NP_004095.4:p.Leu2390Arg
XM_011523538.1:c.7169T>G	XP_011521840.1:p.Leu2390Arg
XM_011523538.2:c.7169T>G	XP_011521840.1:p.Leu2390Arg
NM_004104.5:c.7169T>G MANE Select	NP_004095.4:p.Leu2390Arg