Canonical Allele Identifier: CA112156808

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186620377A>G , CM000666.2:g.186620377A>G	GRCh38
NC_000004.11:g.187541531A>G , CM000666.1:g.187541531A>G	GRCh37
NC_000004.10:g.187778525A>G	NCBI36
NG_046994.1:g.111539T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.6209T>C MANE Select	NP_005236.2:p.Ile2070Thr
ENST00000441802.7:c.6209T>C MANE Select	ENSP00000406229.2:p.Ile2070Thr
NM_005245.3:c.6209T>C	NP_005236.2:p.Ile2070Thr
ENST00000441802.6:c.6209T>C	ENSP00000406229.2:p.Ile2070Thr
ENST00000614102.4:c.6215T>C	ENSP00000479573.1:p.Ile2072Thr
XM_005262834.2:c.6209T>C	XP_005262891.1:p.Ile2070Thr
XM_005262834.3:c.6209T>C	XP_005262891.1:p.Ile2070Thr
XM_005262835.1:c.6209T>C	XP_005262892.1:p.Ile2070Thr
XM_005262835.2:c.6209T>C	XP_005262892.1:p.Ile2070Thr
XM_006714139.2:c.6209T>C	XP_006714202.1:p.Ile2070Thr
XM_006714139.3:c.6209T>C	XP_006714202.1:p.Ile2070Thr