Canonical Allele Identifier: CA8143336

Gene: FCSK

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70472982G>C , CM000678.2:g.70472982G>C	GRCh38
NC_000016.9:g.70506885G>C , CM000678.1:g.70506885G>C	GRCh37
NC_000016.8:g.69064386G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_145059.3:c.1407-1G>C MANE Select	NP_659496.2:n.1407-1G>C
ENST00000288078.11:c.1407-1G>C MANE Select	ENSP00000288078.6:n.1407-1G>C
NM_145059.2:c.1407-1G>C	NP_659496.2:n.1407-1G>C
ENST00000288078.10:c.1407-1G>C	ENSP00000288078.6:n.1407-1G>C
ENST00000378912.6:c.1503-1G>C	ENSP00000368192.2:n.1503-1G>C
ENST00000464499.5:n.1712-1G>C
ENST00000571514.5:c.-115-1G>C	ENSP00000462584.1:n.-115-1G>C
XM_006721161.1:c.1407-1G>C	XP_006721224.1:n.1407-1G>C
XM_006721162.1:c.1326-1G>C	XP_006721225.1:n.1326-1G>C
XM_006721162.2:c.1326-1G>C	XP_006721225.1:n.1326-1G>C
XM_006721164.1:c.1407-1G>C	XP_006721227.1:n.1407-1G>C
XM_011522928.1:c.1407-1G>C	XP_011521230.1:n.1407-1G>C
XM_011522929.1:c.1407-1G>C	XP_011521231.1:n.1407-1G>C
XM_011522930.1:c.1407-1G>C	XP_011521232.1:n.1407-1G>C
XM_011522931.1:c.1407-1G>C	XP_011521233.1:n.1407-1G>C
XM_011522931.3:c.1407-1G>C	XP_011521233.1:n.1407-1G>C
XM_011522932.1:c.1407-1G>C	XP_011521234.1:n.1407-1G>C
XM_011522933.1:c.423-1G>C	XP_011521235.1:n.423-1G>C
XM_017023012.2:c.1407-1G>C	XP_016878501.1:n.1407-1G>C
XM_017023013.2:c.1056-1G>C	XP_016878502.1:n.1056-1G>C
XM_024450180.1:c.1407-1G>C	XP_024305948.1:n.1407-1G>C
XM_024450181.1:c.423-1G>C	XP_024305949.1:n.423-1G>C
XR_001751854.2:n.1465-1G>C
XR_001751856.2:n.1465-1G>C
XR_001751857.2:n.1465-1G>C
XR_002957788.1:n.1465-1G>C
XR_002957789.1:n.1465-1G>C
XR_002957790.1:n.1465-1G>C