Canonical Allele Identifier: CA8850977
Gene: FASN HGNC NCBI

Linked Data

ClinVar Variation Id: 531156
ClinVar RCV Id: RCV000637266
dbSNP Id: rs149770125
ExAC: 17:80037058 G / A
gnomAD v2: 17-80037058-G-A
gnomAD v3: 17-82079182-G-A
gnomAD v4: 17-82079182-G-A
MyVariant Identifiers: chr17:g.80037058G>A (hg19) chr17:g.82079182G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82079182G>A , CM000679.2:g.82079182G>A GRCh38
NC_000017.10:g.80037058G>A , CM000679.1:g.80037058G>A GRCh37
NC_000017.9:g.77630347G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306749.4:c.7497C>T MANE Select ENSP00000304592.2:p.Ser2499=
ENST00000306749.3:c.7497C>T ENSP00000304592.2:p.Ser2499=
ENST00000578424.2:n.776C>T
ENST00000580382.1:c.667C>T
ENST00000584610.2:n.672C>T
ENST00000634990.1:c.7491C>T ENSP00000488964.1:p.Ser2497=
NM_004104.4:c.7497C>T NP_004095.4:p.Ser2499=
XM_011523538.1:c.7497C>T XP_011521840.1:p.Ser2499=
XM_011523538.2:c.7497C>T XP_011521840.1:p.Ser2499=
NM_004104.5:c.7497C>T MANE Select NP_004095.4:p.Ser2499=
Search 100 bp 5'
Search 100 bp 3'