Canonical Allele Identifier: CA3165298
Gene: FAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186603866A>T
GRCh37 chr4:g.187525020A>T
Revel Score:
ENST00000441802 (MANE Select) 0.034
ENST00000260147 0.034
gnomAD v2:
4:187525020 A / T
gnomAD v3:
4:186603866 A / T
gnomAD v4:
chr4-186603866-A-T
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
dbSNP:
2637777
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000441802.7:c.10660T>A MANE Select ENSP00000406229.2:p.Ser3554Thr
ENST00000441802.6:c.10660T>A ENSP00000406229.2:p.Ser3554Thr
ENST00000614102.4:c.10666T>A ENSP00000479573.1:p.Ser3556Thr
NM_005245.3:c.10660T>A NP_005236.2:p.Ser3554Thr
XM_005262834.2:c.10660T>A XP_005262891.1:p.Ser3554Thr
XM_005262835.1:c.10660T>A XP_005262892.1:p.Ser3554Thr
XM_006714139.2:c.10660T>A XP_006714202.1:p.Ser3554Thr
XM_005262834.3:c.10660T>A XP_005262891.1:p.Ser3554Thr
XM_005262835.2:c.10660T>A XP_005262892.1:p.Ser3554Thr
XM_006714139.3:c.10660T>A XP_006714202.1:p.Ser3554Thr
NM_005245.4:c.10660T>A MANE Select NP_005236.2:p.Ser3554Thr
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