Canonical Allele Identifier: CA6038760
Gene: FEN1 HGNC NCBI
FADS2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.61796308T>A
GRCh37 chr11:g.61563780T>A
Revel Score:
ENST00000305885 (MANE Select) 0.416
gnomAD v2:
11:61563780 T / A
gnomAD v3:
11:61796308 T / A
gnomAD v4:
chr11-61796308-T-A
Joint Max Group AF 0.00001327 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV004160432
ClinVar Variation:
2311471
dbSNP:
199498803
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61796308T>A , CM000673.2:g.61796308T>A GRCh38
NC_000011.9:g.61563780T>A , CM000673.1:g.61563780T>A GRCh37
NC_000011.8:g.61320356T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000305885.3:c.947T>A (FEN1) MANE Select ENSP00000305480.2:p.Phe316Tyr
ENST00000305885.2:c.947T>A (FEN1) ENSP00000305480.2:p.Phe316Tyr
ENST00000535307.1:c.369T>A (FEN1)
ENST00000574708.5:c.-55+3280T>A (FADS2) ENSP00000458917.1:n.-55+3280T>A
NM_004111.5:c.947T>A (FEN1) NP_004102.1:p.Phe316Tyr
NM_004111.6:c.947T>A (FEN1) MANE Select NP_004102.1:p.Phe316Tyr
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