Canonical Allele Identifier: CA3165074

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186601391C>T , CM000666.2:g.186601391C>T	GRCh38
NC_000004.11:g.187522545C>T , CM000666.1:g.187522545C>T	GRCh37
NC_000004.10:g.187759539C>T	NCBI36
NG_046994.1:g.130525G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.11518G>A MANE Select	NP_005236.2:p.Val3840Met
ENST00000441802.7:c.11518G>A MANE Select	ENSP00000406229.2:p.Val3840Met
NM_005245.3:c.11518G>A	NP_005236.2:p.Val3840Met
ENST00000441802.6:c.11518G>A	ENSP00000406229.2:p.Val3840Met
ENST00000503253.1:n.310G>A
ENST00000614102.4:c.11524G>A	ENSP00000479573.1:p.Val3842Met
XM_005262834.2:c.11518G>A	XP_005262891.1:p.Val3840Met
XM_005262834.3:c.11518G>A	XP_005262891.1:p.Val3840Met
XM_005262835.1:c.11518G>A	XP_005262892.1:p.Val3840Met
XM_005262835.2:c.11518G>A	XP_005262892.1:p.Val3840Met
XM_006714139.2:c.11518G>A	XP_006714202.1:p.Val3840Met
XM_006714139.3:c.11518G>A	XP_006714202.1:p.Val3840Met