Canonical Allele Identifier: CA3164877
Gene: FAT1 HGNC NCBI
COSMIC:
COSN15656085 (not active)
MyVariant.info:
GRCh38 chr4:g.186597822C>T
GRCh37 chr4:g.187518976C>T
gnomAD v2:
4:187518976 C / T
gnomAD v3:
4:186597822 C / T
gnomAD v4:
chr4-186597822-C-T
Joint Max Group AF 0.57781517 (EAS)
Genomes Max Group AF 0.55021333 (EAS)
Exomes Max Group AF 0.57955393 (EAS)
ClinVar RCV:
RCV001674405
ClinVar Variation:
1261827
dbSNP:
2306990
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186597822C>T , CM000666.2:g.186597822C>T GRCh38
NC_000004.11:g.187518976C>T , CM000666.1:g.187518976C>T GRCh37
NC_000004.10:g.187755970C>T NCBI36
NG_046994.1:g.134094G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000441802.7:c.12258-30G>A MANE Select ENSP00000406229.2:n.12258-30G>A
ENST00000441802.6:c.12258-30G>A ENSP00000406229.2:n.12258-30G>A
ENST00000507105.1:c.54-30G>A
ENST00000507662.1:n.157-30G>A
ENST00000512347.1:n.450-30G>A
ENST00000614102.4:c.12264-30G>A ENSP00000479573.1:n.12264-30G>A
NM_005245.3:c.12258-30G>A NP_005236.2:n.12258-30G>A
XM_005262834.2:c.12258-30G>A XP_005262891.1:n.12258-30G>A
XM_005262835.1:c.12258-30G>A XP_005262892.1:n.12258-30G>A
XM_006714139.2:c.12258-30G>A XP_006714202.1:n.12258-30G>A
XM_005262834.3:c.12258-30G>A XP_005262891.1:n.12258-30G>A
XM_005262835.2:c.12258-30G>A XP_005262892.1:n.12258-30G>A
XM_006714139.3:c.12258-30G>A XP_006714202.1:n.12258-30G>A
NM_005245.4:c.12258-30G>A MANE Select NP_005236.2:n.12258-30G>A
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