Canonical Allele Identifier: CA222917488

Gene: FADS1 FADS2

Linked Data

• dbSNP Id: rs545983866
• gnomAD v2: 11-61579698-C-T
• gnomAD v3: 11-61812226-C-T
• gnomAD v4: 11-61812226-C-T
• MyVariant Identifiers: chr11:g.61579698C>T (hg19) ; chr11:g.61812226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61812226C>T , CM000673.2:g.61812226C>T	GRCh38
NC_000011.9:g.61579698C>T , CM000673.1:g.61579698C>T	GRCh37
NC_000011.8:g.61336274C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000350997.12:c.684+245G>A (FADS1) MANE Select	ENSP00000322229.9:n.684+245G>A
ENST00000350997.11:c.684+245G>A (FADS1)	ENSP00000322229.9:n.684+245G>A
ENST00000421879.5:c.261+245G>A (FADS1)	ENSP00000416043.1:n.261+245G>A
ENST00000424501.5:c.526+245G>A (FADS1)
ENST00000433932.5:c.261+245G>A (FADS1)	ENSP00000405087.1:n.261+245G>A
ENST00000466716.5:c.261+245G>A (FADS1)	ENSP00000446270.1:n.261+245G>A
ENST00000491310.5:c.422+245G>A (FADS1)
ENST00000496123.6:n.7+251G>A (FADS1)
ENST00000540767.5:c.261+245G>A (FADS1)	ENSP00000441871.1:n.261+245G>A
ENST00000542506.5:c.261+245G>A (FADS1)	ENSP00000441403.1:n.261+245G>A
ENST00000544309.5:c.261+245G>A (FADS1)	ENSP00000439790.1:n.261+245G>A
ENST00000544696.5:c.261+245G>A (FADS1)	ENSP00000443037.1:n.261+245G>A
ENST00000545245.5:c.261+245G>A (FADS1)	ENSP00000442170.1:n.261+245G>A
ENST00000545405.5:c.261+245G>A (FADS1)	ENSP00000440652.1:n.261+245G>A
ENST00000574708.5:c.-54-13806C>T (FADS2)	ENSP00000458917.1:n.-54-13806C>T
NM_013402.4:c.684+245G>A (FADS1)	NP_037534.3:n.684+245G>A
XM_011545022.1:c.471+245G>A (FADS1)	XP_011543324.1:n.471+245G>A
NM_013402.6:c.684+245G>A (FADS1)	NP_037534.5:n.684+245G>A
XM_011545022.2:c.471+245G>A (FADS1)	XP_011543324.1:n.471+245G>A
NM_013402.7:c.684+245G>A (FADS1) MANE Select	NP_037534.5:n.684+245G>A