Canonical Allele Identifier: CA8851069
Gene: FASN HGNC NCBI

Linked Data

ClinVar Variation Id: 462107
ClinVar RCV Id: RCV000541183
dbSNP Id: rs146918693
ExAC: 17:80037434 G / A
gnomAD v2: 17-80037434-G-A
gnomAD v3: 17-82079558-G-A
gnomAD v4: 17-82079558-G-A
MyVariant Identifiers: chr17:g.80037434G>A (hg19) chr17:g.82079558G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82079558G>A , CM000679.2:g.82079558G>A GRCh38
NC_000017.10:g.80037434G>A , CM000679.1:g.80037434G>A GRCh37
NC_000017.9:g.77630723G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306749.4:c.7197C>T MANE Select ENSP00000304592.2:p.Ala2399=
ENST00000306749.3:c.7197C>T ENSP00000304592.2:p.Ala2399=
ENST00000578424.2:n.476C>T
ENST00000580382.1:c.367C>T
ENST00000584610.2:n.372C>T
ENST00000634990.1:c.7191C>T ENSP00000488964.1:p.Ala2397=
NM_004104.4:c.7197C>T NP_004095.4:p.Ala2399=
XM_011523538.1:c.7197C>T XP_011521840.1:p.Ala2399=
XM_011523538.2:c.7197C>T XP_011521840.1:p.Ala2399=
NM_004104.5:c.7197C>T MANE Select NP_004095.4:p.Ala2399=
Search 100 bp 5'
Search 100 bp 3'