Canonical Allele Identifier: CA599515699

Gene: FADS1 FADS2

Linked Data

• dbSNP Id: rs1399700585
• gnomAD v2: 11-61579718-C-G
• gnomAD v3: 11-61812246-C-G
• gnomAD v4: 11-61812246-C-G
• MyVariant Identifiers: chr11:g.61579718C>G (hg19) ; chr11:g.61812246C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61812246C>G , CM000673.2:g.61812246C>G	GRCh38
NC_000011.9:g.61579718C>G , CM000673.1:g.61579718C>G	GRCh37
NC_000011.8:g.61336294C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000350997.12:c.684+225G>C (FADS1) MANE Select	ENSP00000322229.9:n.684+225G>C
ENST00000350997.11:c.684+225G>C (FADS1)	ENSP00000322229.9:n.684+225G>C
ENST00000421879.5:c.261+225G>C (FADS1)	ENSP00000416043.1:n.261+225G>C
ENST00000424501.5:c.526+225G>C (FADS1)
ENST00000433932.5:c.261+225G>C (FADS1)	ENSP00000405087.1:n.261+225G>C
ENST00000466716.5:c.261+225G>C (FADS1)	ENSP00000446270.1:n.261+225G>C
ENST00000491310.5:c.422+225G>C (FADS1)
ENST00000496123.6:n.7+231G>C (FADS1)
ENST00000540767.5:c.261+225G>C (FADS1)	ENSP00000441871.1:n.261+225G>C
ENST00000542506.5:c.261+225G>C (FADS1)	ENSP00000441403.1:n.261+225G>C
ENST00000544309.5:c.261+225G>C (FADS1)	ENSP00000439790.1:n.261+225G>C
ENST00000544696.5:c.261+225G>C (FADS1)	ENSP00000443037.1:n.261+225G>C
ENST00000545245.5:c.261+225G>C (FADS1)	ENSP00000442170.1:n.261+225G>C
ENST00000545405.5:c.261+225G>C (FADS1)	ENSP00000440652.1:n.261+225G>C
ENST00000574708.5:c.-54-13786C>G (FADS2)	ENSP00000458917.1:n.-54-13786C>G
NM_013402.4:c.684+225G>C (FADS1)	NP_037534.3:n.684+225G>C
XM_011545022.1:c.471+225G>C (FADS1)	XP_011543324.1:n.471+225G>C
NM_013402.6:c.684+225G>C (FADS1)	NP_037534.5:n.684+225G>C
XM_011545022.2:c.471+225G>C (FADS1)	XP_011543324.1:n.471+225G>C
NM_013402.7:c.684+225G>C (FADS1) MANE Select	NP_037534.5:n.684+225G>C