Canonical Allele Identifier: CA3164597

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186589188T>C , CM000666.2:g.186589188T>C	GRCh38
NC_000004.11:g.187510342T>C , CM000666.1:g.187510342T>C	GRCh37
NC_000004.10:g.187747336T>C	NCBI36
NG_046994.1:g.142728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.13171A>G MANE Select	ENSP00000406229.2:p.Ser4391Gly
ENST00000441802.6:c.13171A>G	ENSP00000406229.2:p.Ser4391Gly
ENST00000500085.2:n.863A>G
ENST00000507105.1:c.473A>G
ENST00000509537.1:c.*74A>G	ENSP00000421003.1:n.*74A>G
ENST00000509927.1:c.241A>G	ENSP00000420869.1:p.Ser81Gly
ENST00000512772.5:c.509A>G
ENST00000614102.4:c.13177A>G	ENSP00000479573.1:p.Ser4393Gly
NM_005245.3:c.13171A>G	NP_005236.2:p.Ser4391Gly
XM_005262834.2:c.13207A>G	XP_005262891.1:p.Ser4403Gly
XM_005262835.1:c.13207A>G	XP_005262892.1:p.Ser4403Gly
XM_006714139.2:c.13171A>G	XP_006714202.1:p.Ser4391Gly
XM_005262834.3:c.13207A>G	XP_005262891.1:p.Ser4403Gly
XM_005262835.2:c.13207A>G	XP_005262892.1:p.Ser4403Gly
XM_006714139.3:c.13171A>G	XP_006714202.1:p.Ser4391Gly
NM_005245.4:c.13171A>G MANE Select	NP_005236.2:p.Ser4391Gly