Canonical Allele Identifier: CA365220909

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110062705A>C (hg19) ; chr6:g.109741502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109741502A>C , CM000668.2:g.109741502A>C	GRCh38
NC_000006.11:g.110062705A>C , CM000668.1:g.110062705A>C	GRCh37
NC_000006.10:g.110169398A>C	NCBI36
NG_007977.1:g.55282A>C , LRG_241:g.55282A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.834A>C MANE Select	ENSP00000230124.4:p.Lys278Asn
ENST00000368941.2:c.647-1608A>C	ENSP00000357937.2:n.647-1608A>C
ENST00000415980.2:c.-223-20589A>C	ENSP00000405660.2:n.-223-20589A>C
ENST00000454215.6:c.810A>C	ENSP00000412156.2:p.Lys270Asn
ENST00000674532.1:n.4030A>C
ENST00000674557.1:c.*266A>C	ENSP00000501608.1:n.*266A>C
ENST00000674569.1:c.647-1608A>C	ENSP00000502769.1:n.647-1608A>C
ENST00000674571.1:c.647-1608A>C	ENSP00000501633.1:n.647-1608A>C
ENST00000674575.1:c.641-1608A>C	ENSP00000502276.1:n.641-1608A>C
ENST00000674641.1:c.489A>C	ENSP00000501609.1:p.Lys163Asn
ENST00000674644.1:c.-54-1608A>C	ENSP00000502201.1:n.-54-1608A>C
ENST00000674649.1:c.*527A>C	ENSP00000501669.1:n.*527A>C
ENST00000674657.1:c.*266A>C	ENSP00000502314.1:n.*266A>C
ENST00000674744.1:c.828A>C	ENSP00000501661.1:p.Lys276Asn
ENST00000674778.1:c.647-1608A>C	ENSP00000502742.1:n.647-1608A>C
ENST00000674783.1:c.834A>C	ENSP00000502755.1:p.Lys278Asn
ENST00000674830.1:n.805A>C
ENST00000674884.1:c.852A>C	ENSP00000502668.1:p.Lys284Asn
ENST00000674930.1:c.*165-2173A>C	ENSP00000502657.1:n.*165-2173A>C
ENST00000674933.1:c.603A>C	ENSP00000502376.1:p.Lys201Asn
ENST00000674956.1:c.647-1608A>C	ENSP00000501904.1:n.647-1608A>C
ENST00000675004.1:c.*786A>C	ENSP00000501868.1:n.*786A>C
ENST00000675009.1:c.*352A>C	ENSP00000502098.1:n.*352A>C
ENST00000675096.1:c.834A>C	ENSP00000502116.1:p.Lys278Asn
ENST00000675122.1:c.834A>C	ENSP00000501810.1:p.Lys278Asn
ENST00000675153.1:c.834A>C	ENSP00000501682.1:p.Lys278Asn
ENST00000675272.1:n.4730A>C
ENST00000675284.1:c.834A>C	ENSP00000502758.1:p.Lys278Asn
ENST00000675311.1:c.*79-1608A>C	ENSP00000501961.1:n.*79-1608A>C
ENST00000675426.1:c.*79-1608A>C	ENSP00000501819.1:n.*79-1608A>C
ENST00000675523.1:c.603A>C	ENSP00000502384.1:p.Lys201Asn
ENST00000675552.1:c.647-1608A>C	ENSP00000502197.1:n.647-1608A>C
ENST00000675681.1:c.834A>C	ENSP00000502705.1:p.Lys278Asn
ENST00000675714.1:c.834A>C	ENSP00000502561.1:p.Lys278Asn
ENST00000675726.1:c.834A>C	ENSP00000502452.1:p.Lys278Asn
ENST00000675772.1:c.834A>C	ENSP00000501678.1:p.Lys278Asn
ENST00000675831.1:c.647-2173A>C	ENSP00000502382.1:n.647-2173A>C
ENST00000675847.1:n.958A>C
ENST00000675887.1:c.*437A>C	ENSP00000502123.1:n.*437A>C
ENST00000675973.1:c.705A>C	ENSP00000502407.1:p.Lys235Asn
ENST00000675991.1:c.647-1608A>C	ENSP00000502162.1:n.647-1608A>C
ENST00000675994.1:c.647-1608A>C	ENSP00000502419.1:n.647-1608A>C
ENST00000676021.1:c.834A>C	ENSP00000502746.1:p.Lys278Asn
ENST00000676037.1:c.834A>C	ENSP00000502181.1:p.Lys278Asn
ENST00000676136.1:n.974A>C
ENST00000676435.1:c.834A>C	ENSP00000502614.1:p.Lys278Asn
ENST00000676442.1:c.705A>C	ENSP00000502595.1:p.Lys235Asn
ENST00000230124.7:c.834A>C	ENSP00000230124.3:p.Lys278Asn
ENST00000368941.1:c.416-1608A>C	ENSP00000357937.1:n.416-1608A>C
NM_014845.5:c.834A>C , LRG_241t1:c.834A>C	NP_055660.1:p.Lys278Asn
XM_011536281.1:c.771A>C	XP_011534583.1:p.Lys257Asn
XM_011536281.3:c.771A>C	XP_011534583.1:p.Lys257Asn
XM_017011591.2:c.834A>C	XP_016867080.1:p.Lys278Asn
XM_017011592.1:c.285A>C	XP_016867081.1:p.Lys95Asn
XM_017011593.2:c.-54-1608A>C	XP_016867082.1:n.-54-1608A>C
NM_014845.6:c.834A>C MANE Select	NP_055660.1:p.Lys278Asn