Canonical Allele Identifier: CA8851028

Gene: FASN

Linked Data

• ClinVar Variation Id: 462109
• ClinVar RCV Id: RCV000529965
• dbSNP Id: rs148372886
• ExAC: 17:80037274 C / T
• gnomAD v2: 17-80037274-C-T
• gnomAD v3: 17-82079398-C-T
• gnomAD v4: 17-82079398-C-T
• MyVariant Identifiers: chr17:g.80037274C>T (hg19) ; chr17:g.82079398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.82079398C>T , CM000679.2:g.82079398C>T	GRCh38
NC_000017.10:g.80037274C>T , CM000679.1:g.80037274C>T	GRCh37
NC_000017.9:g.77630563C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306749.4:c.7357G>A MANE Select	ENSP00000304592.2:p.Ala2453Thr
ENST00000306749.3:c.7357G>A	ENSP00000304592.2:p.Ala2453Thr
ENST00000578424.2:n.636G>A
ENST00000580382.1:c.527G>A
ENST00000584610.2:n.532G>A
ENST00000634990.1:c.7351G>A	ENSP00000488964.1:p.Ala2451Thr
NM_004104.4:c.7357G>A	NP_004095.4:p.Ala2453Thr
XM_011523538.1:c.7357G>A	XP_011521840.1:p.Ala2453Thr
XM_011523538.2:c.7357G>A	XP_011521840.1:p.Ala2453Thr
NM_004104.5:c.7357G>A MANE Select	NP_004095.4:p.Ala2453Thr