Canonical Allele Identifier: CA3771370
Gene: FANCE HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35455772C>T
GRCh37 chr6:g.35423549C>T
Revel Score:
ENST00000229769 (MANE Select) 0.073
gnomAD v2:
6:35423549 C / T
gnomAD v3:
6:35455772 C / T
gnomAD v4:
chr6-35455772-C-T
Joint Max Group AF 0.00019861 (AFR)
Genomes Max Group AF 0.00026072 (AFR)
Exomes Max Group AF 0.00005849 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35455772C>T , CM000668.2:g.35455772C>T GRCh38
NC_000006.11:g.35423549C>T , CM000668.1:g.35423549C>T GRCh37
NC_000006.10:g.35531527C>T NCBI36
NG_011708.1:g.8412C>T , LRG_498:g.8412C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696264.1:c.274C>T ENSP00000512511.1:p.Arg92Trp
ENST00000696265.1:c.274C>T ENSP00000512512.1:p.Arg92Trp
ENST00000229769.3:c.274C>T MANE Select ENSP00000229769.2:p.Arg92Trp
ENST00000648059.1:c.274C>T ENSP00000497902.1:p.Arg92Trp
ENST00000229769.2:c.274C>T ENSP00000229769.2:p.Arg92Trp
NM_021922.2:c.274C>T , LRG_498t1:c.274C>T NP_068741.1:p.Arg92Trp
XM_005248885.2:c.274C>T XP_005248942.1:p.Arg92Trp
XM_005248886.2:c.274C>T XP_005248943.1:p.Arg92Trp
XM_005248887.2:c.274C>T XP_005248944.1:p.Arg92Trp
XM_005248888.2:c.274C>T XP_005248945.1:p.Arg92Trp
XM_011514343.1:c.-21C>T XP_011512645.1:n.-21C>T
XM_011514344.1:c.-21C>T XP_011512646.1:n.-21C>T
XM_005248888.3:c.274C>T XP_005248945.1:p.Arg92Trp
XM_011514343.2:c.-21C>T XP_011512645.1:n.-21C>T
XR_001743226.1:n.481C>T
XR_002956267.1:n.481C>T
NM_021922.3:c.274C>T MANE Select NP_068741.1:p.Arg92Trp
Search 100 bp 5'
Search 100 bp 3'