Canonical Allele Identifier: CA3165836
Gene: FAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186617864C>T
GRCh37 chr4:g.187539018C>T
Revel Score:
ENST00000441802 (MANE Select) 0.275
ENST00000260147 0.275
gnomAD v2:
4:187539018 C / T
gnomAD v3:
4:186617864 C / T
gnomAD v4:
chr4-186617864-C-T
Joint Max Group AF 0.00020946 (AFR)
Genomes Max Group AF 0.00022172 (AFR)
Exomes Max Group AF 0.00011827 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186617864C>T , CM000666.2:g.186617864C>T GRCh38
NC_000004.11:g.187539018C>T , CM000666.1:g.187539018C>T GRCh37
NC_000004.10:g.187776012C>T NCBI36
NG_046994.1:g.114052G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000441802.7:c.8722G>A MANE Select ENSP00000406229.2:p.Val2908Ile
ENST00000441802.6:c.8722G>A ENSP00000406229.2:p.Val2908Ile
ENST00000614102.4:c.8728G>A ENSP00000479573.1:p.Val2910Ile
NM_005245.3:c.8722G>A NP_005236.2:p.Val2908Ile
XM_005262834.2:c.8722G>A XP_005262891.1:p.Val2908Ile
XM_005262835.1:c.8722G>A XP_005262892.1:p.Val2908Ile
XM_006714139.2:c.8722G>A XP_006714202.1:p.Val2908Ile
XM_005262834.3:c.8722G>A XP_005262891.1:p.Val2908Ile
XM_005262835.2:c.8722G>A XP_005262892.1:p.Val2908Ile
XM_006714139.3:c.8722G>A XP_006714202.1:p.Val2908Ile
NM_005245.4:c.8722G>A MANE Select NP_005236.2:p.Val2908Ile
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