gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61796827G>C , CM000673.2:g.61796827G>C | GRCh38 |
| NC_000011.9:g.61564299G>C , CM000673.1:g.61564299G>C | GRCh37 |
| NC_000011.8:g.61320875G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305885.3:c.*323G>C (FEN1) MANE Select | ENSP00000305480.2:n.*323G>C | |
| ENST00000305885.2:c.*323G>C (FEN1) | ENSP00000305480.2:n.*323G>C | |
| ENST00000535307.1:c.458-95G>C (FEN1) | ||
| ENST00000574708.5:c.-55+3799G>C (FADS2) | ENSP00000458917.1:n.-55+3799G>C | |
| NM_004111.5:c.*323G>C (FEN1) | NP_004102.1:n.*323G>C | |
| NM_004111.6:c.*323G>C (FEN1) MANE Select | NP_004102.1:n.*323G>C |