Canonical Allele Identifier: CA8143480

Gene: FCSK

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70474586C>T , CM000678.2:g.70474586C>T	GRCh38
NC_000016.9:g.70508489C>T , CM000678.1:g.70508489C>T	GRCh37
NC_000016.8:g.69065990C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_145059.3:c.2047C>T MANE Select	NP_659496.2:p.Arg683Cys
ENST00000288078.11:c.2047C>T MANE Select	ENSP00000288078.6:p.Arg683Cys
NM_145059.2:c.2047C>T	NP_659496.2:p.Arg683Cys
ENST00000288078.10:c.2047C>T	ENSP00000288078.6:p.Arg683Cys
ENST00000378912.6:c.2143C>T	ENSP00000368192.2:p.Arg715Cys
ENST00000464499.5:n.2294-40C>T
ENST00000571514.5:c.520C>T	ENSP00000462584.1:p.Arg174Cys
XM_006721161.1:c.2047C>T	XP_006721224.1:p.Arg683Cys
XM_006721162.1:c.1966C>T	XP_006721225.1:p.Arg656Cys
XM_006721162.2:c.1966C>T	XP_006721225.1:p.Arg656Cys
XM_006721164.1:c.1989-40C>T	XP_006721227.1:n.1989-40C>T
XM_011522928.1:c.2047C>T	XP_011521230.1:p.Arg683Cys
XM_011522929.1:c.2047C>T	XP_011521231.1:p.Arg683Cys
XM_011522930.1:c.2047C>T	XP_011521232.1:p.Arg683Cys
XM_011522931.1:c.2047C>T	XP_011521233.1:p.Arg683Cys
XM_011522931.3:c.2047C>T	XP_011521233.1:p.Arg683Cys
XM_011522932.1:c.2047C>T	XP_011521234.1:p.Arg683Cys
XM_011522933.1:c.1063C>T	XP_011521235.1:p.Arg355Cys
XM_017023012.2:c.2047C>T	XP_016878501.1:p.Arg683Cys
XM_017023013.2:c.1696C>T	XP_016878502.1:p.Arg566Cys
XM_024450180.1:c.2047C>T	XP_024305948.1:p.Arg683Cys
XM_024450181.1:c.1063C>T	XP_024305949.1:p.Arg355Cys
XR_001751854.2:n.2105C>T
XR_001751856.2:n.2105C>T
XR_001751857.2:n.2047-40C>T
XR_002957788.1:n.2105C>T
XR_002957789.1:n.2105C>T
XR_002957790.1:n.2105C>T