Canonical Allele Identifier: CA15677622
Gene: FADS1 HGNC NCBI
FADS2 HGNC NCBI
COSMIC:
COSN26731607 (not active)
MyVariant.info:
GRCh38 chr11:g.61802358C>T
GRCh37 chr11:g.61569830C>T
gnomAD v2:
11:61569830 C / T
gnomAD v3:
11:61802358 C / T
gnomAD v4:
chr11-61802358-C-T
Joint Max Group AF 0.58365012 (AMR)
Genomes Max Group AF 0.53697989 (EAS)
Exomes Max Group AF 0.62561784 (AMR)
dbSNP:
174546
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61802358C>T , CM000673.2:g.61802358C>T GRCh38
NC_000011.9:g.61569830C>T , CM000673.1:g.61569830C>T GRCh37
NC_000011.8:g.61326406C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000350997.12:c.*53G>A (FADS1) MANE Select ENSP00000322229.9:n.*53G>A
ENST00000350997.11:c.*53G>A (FADS1) ENSP00000322229.9:n.*53G>A
ENST00000433932.5:c.*53G>A (FADS1) ENSP00000405087.1:n.*53G>A
ENST00000460649.5:c.*53G>A (FADS1) ENSP00000445253.1:n.*53G>A
ENST00000536991.5:c.*53G>A (FADS1) ENSP00000439097.1:n.*53G>A
ENST00000542506.5:c.*53G>A (FADS1) ENSP00000441403.1:n.*53G>A
ENST00000574708.5:c.-55+9330C>T (FADS2) ENSP00000458917.1:n.-55+9330C>T
NM_013402.4:c.*53G>A (FADS1) NP_037534.3:n.*53G>A
XM_011545022.1:c.*53G>A (FADS1) XP_011543324.1:n.*53G>A
NM_013402.6:c.*53G>A (FADS1) NP_037534.5:n.*53G>A
XM_011545022.2:c.*53G>A (FADS1) XP_011543324.1:n.*53G>A
NM_013402.7:c.*53G>A (FADS1) MANE Select NP_037534.5:n.*53G>A
Search 100 bp 5'
Search 100 bp 3'