Canonical Allele Identifier: CA3165297
Gene: FAT1 HGNC NCBI
COSMIC:
COSM4984957 (not active)
COSM4984958 (not active)
MyVariant.info:
GRCh38 chr4:g.186603866A>C
GRCh37 chr4:g.187525020A>C
Revel Score:
ENST00000441802 (MANE Select) 0.039
ENST00000260147 0.039
gnomAD v2:
4:187525020 A / C
gnomAD v3:
4:186603866 A / C
gnomAD v4:
chr4-186603866-A-C
Joint Max Group AF 0.7336301 (AFR)
Genomes Max Group AF 0.72647343 (AFR)
Exomes Max Group AF 0.73772976 (AFR)
ClinVar RCV:
RCV001680074
ClinVar Variation:
1268969
dbSNP:
2637777
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186603866A>C , CM000666.2:g.186603866A>C GRCh38
NC_000004.11:g.187525020A>C , CM000666.1:g.187525020A>C GRCh37
NC_000004.10:g.187762014A>C NCBI36
NG_046994.1:g.128050T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000441802.7:c.10660T>G MANE Select ENSP00000406229.2:p.Ser3554Ala
ENST00000441802.6:c.10660T>G ENSP00000406229.2:p.Ser3554Ala
ENST00000614102.4:c.10666T>G ENSP00000479573.1:p.Ser3556Ala
NM_005245.3:c.10660T>G NP_005236.2:p.Ser3554Ala
XM_005262834.2:c.10660T>G XP_005262891.1:p.Ser3554Ala
XM_005262835.1:c.10660T>G XP_005262892.1:p.Ser3554Ala
XM_006714139.2:c.10660T>G XP_006714202.1:p.Ser3554Ala
XM_005262834.3:c.10660T>G XP_005262891.1:p.Ser3554Ala
XM_005262835.2:c.10660T>G XP_005262892.1:p.Ser3554Ala
XM_006714139.3:c.10660T>G XP_006714202.1:p.Ser3554Ala
NM_005245.4:c.10660T>G MANE Select NP_005236.2:p.Ser3554Ala
Search 100 bp 5'
Search 100 bp 3'