Canonical Allele Identifier: CA13461912
Gene: FADS1 HGNC NCBI
FADS2 HGNC NCBI
COSMIC:
COSN26731729 (not active)
MyVariant.info:
GRCh38 chr11:g.61803311T>C
GRCh37 chr11:g.61570783T>C
gnomAD v2:
11:61570783 T / C
gnomAD v3:
11:61803311 T / C
gnomAD v4:
chr11-61803311-T-C
Joint Max Group AF 0.60356956 (AMR)
Genomes Max Group AF 0.53742941 (EAS)
Exomes Max Group AF 0.6441545 (AMR)
dbSNP:
174547
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61803311T>C , CM000673.2:g.61803311T>C GRCh38
NC_000011.9:g.61570783T>C , CM000673.1:g.61570783T>C GRCh37
NC_000011.8:g.61327359T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000350997.12:c.1248+52A>G (FADS1) MANE Select ENSP00000322229.9:n.1248+52A>G
ENST00000350997.11:c.1248+52A>G (FADS1) ENSP00000322229.9:n.1248+52A>G
ENST00000433932.5:c.825+52A>G (FADS1) ENSP00000405087.1:n.825+52A>G
ENST00000460649.5:c.183+52A>G (FADS1) ENSP00000445253.1:n.183+52A>G
ENST00000496123.6:n.522+52A>G (FADS1)
ENST00000536991.5:c.321+52A>G (FADS1) ENSP00000439097.1:n.321+52A>G
ENST00000542506.5:c.825+52A>G (FADS1) ENSP00000441403.1:n.825+52A>G
ENST00000574708.5:c.-55+10283T>C (FADS2) ENSP00000458917.1:n.-55+10283T>C
NM_013402.4:c.1248+52A>G (FADS1) NP_037534.3:n.1248+52A>G
XM_011545022.1:c.1035+52A>G (FADS1) XP_011543324.1:n.1035+52A>G
NM_013402.6:c.1248+52A>G (FADS1) NP_037534.5:n.1248+52A>G
XM_011545022.2:c.1035+52A>G (FADS1) XP_011543324.1:n.1035+52A>G
NM_013402.7:c.1248+52A>G (FADS1) MANE Select NP_037534.5:n.1248+52A>G
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