Canonical Allele Identifier: CA072793
Gene: FAT1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186628751C>T
GRCh37 chr4:g.187549905C>T
Revel Score:
ENST00000441802 (MANE Select) 0.320
ENST00000260147 0.320
gnomAD v2:
4:187549905 C / T
gnomAD v3:
4:186628751 C / T
gnomAD v4:
chr4-186628751-C-T
Joint Max Group AF 0.00201252 (AFR)
Genomes Max Group AF 0.00213506 (AFR)
Exomes Max Group AF 0.00161721 (AFR)
ClinVar RCV:
RCV000207426
RCV001853287
ClinVar Variation:
221920
dbSNP:
200828005
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186628751C>T , CM000666.2:g.186628751C>T GRCh38
NC_000004.11:g.187549905C>T , CM000666.1:g.187549905C>T GRCh37
NC_000004.10:g.187786899C>T NCBI36
NG_046994.1:g.103165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000441802.7:c.4336G>A MANE Select ENSP00000406229.2:p.Val1446Ile
ENST00000441802.6:c.4336G>A ENSP00000406229.2:p.Val1446Ile
ENST00000614102.4:c.4336G>A ENSP00000479573.1:p.Val1446Ile
NM_005245.3:c.4336G>A NP_005236.2:p.Val1446Ile
XM_005262834.2:c.4336G>A XP_005262891.1:p.Val1446Ile
XM_005262835.1:c.4336G>A XP_005262892.1:p.Val1446Ile
XM_006714139.2:c.4336G>A XP_006714202.1:p.Val1446Ile
XM_005262834.3:c.4336G>A XP_005262891.1:p.Val1446Ile
XM_005262835.2:c.4336G>A XP_005262892.1:p.Val1446Ile
XM_006714139.3:c.4336G>A XP_006714202.1:p.Val1446Ile
NM_005245.4:c.4336G>A MANE Select NP_005236.2:p.Val1446Ile
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