Canonical Allele Identifier: CA3164587

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186589165T>C , CM000666.2:g.186589165T>C	GRCh38
NC_000004.11:g.187510319T>C , CM000666.1:g.187510319T>C	GRCh37
NC_000004.10:g.187747313T>C	NCBI36
NG_046994.1:g.142751A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.13194A>G MANE Select	NP_005236.2:p.Gln4398=
ENST00000441802.7:c.13194A>G MANE Select	ENSP00000406229.2:p.Gln4398=
NM_005245.3:c.13194A>G	NP_005236.2:p.Gln4398=
ENST00000441802.6:c.13194A>G	ENSP00000406229.2:p.Gln4398=
ENST00000500085.2:n.886A>G
ENST00000507105.1:c.496A>G
ENST00000509537.1:c.*97A>G	ENSP00000421003.1:n.*97A>G
ENST00000509927.1:c.264A>G	ENSP00000420869.1:p.Gln88=
ENST00000512772.5:c.532A>G
ENST00000614102.4:c.13200A>G	ENSP00000479573.1:p.Gln4400=
XM_005262834.2:c.13230A>G	XP_005262891.1:p.Gln4410=
XM_005262834.3:c.13230A>G	XP_005262891.1:p.Gln4410=
XM_005262835.1:c.13230A>G	XP_005262892.1:p.Gln4410=
XM_005262835.2:c.13230A>G	XP_005262892.1:p.Gln4410=
XM_006714139.2:c.13194A>G	XP_006714202.1:p.Gln4398=
XM_006714139.3:c.13194A>G	XP_006714202.1:p.Gln4398=