Canonical Allele Identifier: CA15677620
Gene: FEN1 HGNC NCBI
FADS2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.61796827G>T
GRCh37 chr11:g.61564299G>T
gnomAD v2:
11:61564299 G / T
gnomAD v3:
11:61796827 G / T
gnomAD v4:
chr11-61796827-G-T
Joint Max Group AF 0.50445099 (AMR)
Genomes Max Group AF 0.53654796 (EAS)
Exomes Max Group AF 0.56401307 (AMR)
dbSNP:
4246215
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61796827G>T , CM000673.2:g.61796827G>T GRCh38
NC_000011.9:g.61564299G>T , CM000673.1:g.61564299G>T GRCh37
NC_000011.8:g.61320875G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000305885.3:c.*323G>T (FEN1) MANE Select ENSP00000305480.2:n.*323G>T
ENST00000305885.2:c.*323G>T (FEN1) ENSP00000305480.2:n.*323G>T
ENST00000535307.1:c.458-95G>T (FEN1)
ENST00000574708.5:c.-55+3799G>T (FADS2) ENSP00000458917.1:n.-55+3799G>T
NM_004111.5:c.*323G>T (FEN1) NP_004102.1:n.*323G>T
NM_004111.6:c.*323G>T (FEN1) MANE Select NP_004102.1:n.*323G>T
Search 100 bp 5'
Search 100 bp 3'