Canonical Allele Identifier: CA3165077

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186601412T>C , CM000666.2:g.186601412T>C	GRCh38
NC_000004.11:g.187522566T>C , CM000666.1:g.187522566T>C	GRCh37
NC_000004.10:g.187759560T>C	NCBI36
NG_046994.1:g.130504A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.11497A>G MANE Select	NP_005236.2:p.Thr3833Ala
ENST00000441802.7:c.11497A>G MANE Select	ENSP00000406229.2:p.Thr3833Ala
NM_005245.3:c.11497A>G	NP_005236.2:p.Thr3833Ala
ENST00000441802.6:c.11497A>G	ENSP00000406229.2:p.Thr3833Ala
ENST00000503253.1:n.289A>G
ENST00000614102.4:c.11503A>G	ENSP00000479573.1:p.Thr3835Ala
XM_005262834.2:c.11497A>G	XP_005262891.1:p.Thr3833Ala
XM_005262834.3:c.11497A>G	XP_005262891.1:p.Thr3833Ala
XM_005262835.1:c.11497A>G	XP_005262892.1:p.Thr3833Ala
XM_005262835.2:c.11497A>G	XP_005262892.1:p.Thr3833Ala
XM_006714139.2:c.11497A>G	XP_006714202.1:p.Thr3833Ala
XM_006714139.3:c.11497A>G	XP_006714202.1:p.Thr3833Ala