Canonical Allele Identifier: CA14390883
Gene: FASN HGNC NCBI
COSMIC:
COSN23896802 (not active)
MyVariant.info:
GRCh38 chr17:g.82081076T>G
GRCh37 chr17:g.80038952T>G
gnomAD v2:
17:80038952 T / G
gnomAD v3:
17:82081076 T / G
gnomAD v4:
chr17-82081076-T-G
Joint Max Group AF 0.78903572 (AFR)
Genomes Max Group AF 0.78677793 (AFR)
Exomes Max Group AF 0.78683164 (AFR)
dbSNP:
4246444
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82081076T>G , CM000679.2:g.82081076T>G GRCh38
NC_000017.10:g.80038952T>G , CM000679.1:g.80038952T>G GRCh37
NC_000017.9:g.77632241T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306749.4:c.6595+88A>C MANE Select ENSP00000304592.2:n.6595+88A>C
ENST00000306749.3:c.6595+88A>C ENSP00000304592.2:n.6595+88A>C
ENST00000634990.1:c.6589+88A>C ENSP00000488964.1:n.6589+88A>C
NM_004104.4:c.6595+88A>C NP_004095.4:n.6595+88A>C
XM_011523538.1:c.6595+88A>C XP_011521840.1:n.6595+88A>C
XM_011523538.2:c.6595+88A>C XP_011521840.1:n.6595+88A>C
NM_004104.5:c.6595+88A>C MANE Select NP_004095.4:n.6595+88A>C
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