Canonical Allele Identifier: CA112156689

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186620149A>C , CM000666.2:g.186620149A>C	GRCh38
NC_000004.11:g.187541303A>C , CM000666.1:g.187541303A>C	GRCh37
NC_000004.10:g.187778297A>C	NCBI36
NG_046994.1:g.111767T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.6437T>G MANE Select	NP_005236.2:p.Leu2146Ter
ENST00000441802.7:c.6437T>G MANE Select	ENSP00000406229.2:p.Leu2146Ter
NM_005245.3:c.6437T>G	NP_005236.2:p.Leu2146Ter
ENST00000441802.6:c.6437T>G	ENSP00000406229.2:p.Leu2146Ter
ENST00000614102.4:c.6443T>G	ENSP00000479573.1:p.Leu2148Ter
XM_005262834.2:c.6437T>G	XP_005262891.1:p.Leu2146Ter
XM_005262834.3:c.6437T>G	XP_005262891.1:p.Leu2146Ter
XM_005262835.1:c.6437T>G	XP_005262892.1:p.Leu2146Ter
XM_005262835.2:c.6437T>G	XP_005262892.1:p.Leu2146Ter
XM_006714139.2:c.6437T>G	XP_006714202.1:p.Leu2146Ter
XM_006714139.3:c.6437T>G	XP_006714202.1:p.Leu2146Ter