Canonical Allele Identifier: CA3164596

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186589187C>G , CM000666.2:g.186589187C>G	GRCh38
NC_000004.11:g.187510341C>G , CM000666.1:g.187510341C>G	GRCh37
NC_000004.10:g.187747335C>G	NCBI36
NG_046994.1:g.142729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.13172G>C MANE Select	ENSP00000406229.2:p.Ser4391Thr
ENST00000441802.6:c.13172G>C	ENSP00000406229.2:p.Ser4391Thr
ENST00000500085.2:n.864G>C
ENST00000507105.1:c.474G>C
ENST00000509537.1:c.*75G>C	ENSP00000421003.1:n.*75G>C
ENST00000509927.1:c.242G>C	ENSP00000420869.1:p.Ser81Thr
ENST00000512772.5:c.510G>C
ENST00000614102.4:c.13178G>C	ENSP00000479573.1:p.Ser4393Thr
NM_005245.3:c.13172G>C	NP_005236.2:p.Ser4391Thr
XM_005262834.2:c.13208G>C	XP_005262891.1:p.Ser4403Thr
XM_005262835.1:c.13208G>C	XP_005262892.1:p.Ser4403Thr
XM_006714139.2:c.13172G>C	XP_006714202.1:p.Ser4391Thr
XM_005262834.3:c.13208G>C	XP_005262891.1:p.Ser4403Thr
XM_005262835.2:c.13208G>C	XP_005262892.1:p.Ser4403Thr
XM_006714139.3:c.13172G>C	XP_006714202.1:p.Ser4391Thr
NM_005245.4:c.13172G>C MANE Select	NP_005236.2:p.Ser4391Thr