Canonical Allele Identifier: CA3164594

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186589185C>T , CM000666.2:g.186589185C>T	GRCh38
NC_000004.11:g.187510339C>T , CM000666.1:g.187510339C>T	GRCh37
NC_000004.10:g.187747333C>T	NCBI36
NG_046994.1:g.142731G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.13174G>A MANE Select	NP_005236.2:p.Val4392Ile
ENST00000441802.7:c.13174G>A MANE Select	ENSP00000406229.2:p.Val4392Ile
NM_005245.3:c.13174G>A	NP_005236.2:p.Val4392Ile
ENST00000441802.6:c.13174G>A	ENSP00000406229.2:p.Val4392Ile
ENST00000500085.2:n.866G>A
ENST00000507105.1:c.476G>A
ENST00000509537.1:c.*77G>A	ENSP00000421003.1:n.*77G>A
ENST00000509927.1:c.244G>A	ENSP00000420869.1:p.Val82Ile
ENST00000512772.5:c.512G>A
ENST00000614102.4:c.13180G>A	ENSP00000479573.1:p.Val4394Ile
XM_005262834.2:c.13210G>A	XP_005262891.1:p.Val4404Ile
XM_005262834.3:c.13210G>A	XP_005262891.1:p.Val4404Ile
XM_005262835.1:c.13210G>A	XP_005262892.1:p.Val4404Ile
XM_005262835.2:c.13210G>A	XP_005262892.1:p.Val4404Ile
XM_006714139.2:c.13174G>A	XP_006714202.1:p.Val4392Ile
XM_006714139.3:c.13174G>A	XP_006714202.1:p.Val4392Ile