Canonical Allele Identifier: CA13418926

Gene: FADS1 FADS2

Linked Data

• dbSNP Id: rs174548
• gnomAD v2: 11-61571348-C-G
• gnomAD v3: 11-61803876-C-G
• gnomAD v4: 11-61803876-C-G
• MyVariant Identifiers: chr11:g.61571348C>G (hg19) ; chr11:g.61803876C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61803876C>G , CM000673.2:g.61803876C>G	GRCh38
NC_000011.9:g.61571348C>G , CM000673.1:g.61571348C>G	GRCh37
NC_000011.8:g.61327924C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000350997.12:c.1054-109G>C (FADS1) MANE Select	ENSP00000322229.9:n.1054-109G>C
ENST00000350997.11:c.1054-109G>C (FADS1)	ENSP00000322229.9:n.1054-109G>C
ENST00000433932.5:c.631-109G>C (FADS1)	ENSP00000405087.1:n.631-109G>C
ENST00000460649.5:c.-121G>C (FADS1)	ENSP00000445253.1:n.-121G>C
ENST00000496123.6:n.328-109G>C (FADS1)
ENST00000536991.5:c.127-109G>C (FADS1)	ENSP00000439097.1:n.127-109G>C
ENST00000539999.1:c.241-109G>C (FADS1)	ENSP00000443587.1:n.241-109G>C
ENST00000542506.5:c.631-109G>C (FADS1)	ENSP00000441403.1:n.631-109G>C
ENST00000574708.5:c.-55+10848C>G (FADS2)	ENSP00000458917.1:n.-55+10848C>G
NM_013402.4:c.1054-109G>C (FADS1)	NP_037534.3:n.1054-109G>C
XM_011545022.1:c.841-109G>C (FADS1)	XP_011543324.1:n.841-109G>C
NM_013402.6:c.1054-109G>C (FADS1)	NP_037534.5:n.1054-109G>C
XM_011545022.2:c.841-109G>C (FADS1)	XP_011543324.1:n.841-109G>C
NM_013402.7:c.1054-109G>C (FADS1) MANE Select	NP_037534.5:n.1054-109G>C