Canonical Allele Identifier: CA365232035

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110107653G>C (hg19) ; chr6:g.109786450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109786450G>C , CM000668.2:g.109786450G>C	GRCh38
NC_000006.11:g.110107653G>C , CM000668.1:g.110107653G>C	GRCh37
NC_000006.10:g.110214346G>C	NCBI36
NG_007977.1:g.100230G>C , LRG_241:g.100230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2096+1G>C MANE Select	ENSP00000230124.4:n.2096+1G>C
ENST00000415980.2:c.602+1G>C	ENSP00000405660.2:n.602+1G>C
ENST00000419951.2:n.444+1G>C
ENST00000674532.1:n.5292+1G>C
ENST00000674557.1:c.*1389+1G>C	ENSP00000501608.1:n.*1389+1G>C
ENST00000674569.1:c.*1215+1G>C	ENSP00000502769.1:n.*1215+1G>C
ENST00000674571.1:c.*1215+1G>C	ENSP00000501633.1:n.*1215+1G>C
ENST00000674575.1:c.*1215+1G>C	ENSP00000502276.1:n.*1215+1G>C
ENST00000674641.1:c.1751+1G>C	ENSP00000501609.1:n.1751+1G>C
ENST00000674644.1:c.1166+1G>C	ENSP00000502201.1:n.1166+1G>C
ENST00000674649.1:c.*1789+1G>C	ENSP00000501669.1:n.*1789+1G>C
ENST00000674657.1:c.*1528+1G>C	ENSP00000502314.1:n.*1528+1G>C
ENST00000674744.1:c.2090+1G>C	ENSP00000501661.1:n.2090+1G>C
ENST00000674778.1:c.*1314+1G>C	ENSP00000502742.1:n.*1314+1G>C
ENST00000674783.1:c.*1011+1G>C	ENSP00000502755.1:n.*1011+1G>C
ENST00000674884.1:c.2114+1G>C	ENSP00000502668.1:n.2114+1G>C
ENST00000674930.1:c.*1221+1G>C	ENSP00000502657.1:n.*1221+1G>C
ENST00000674933.1:c.1865+1G>C	ENSP00000502376.1:n.1865+1G>C
ENST00000674956.1:c.*1310+1G>C	ENSP00000501904.1:n.*1310+1G>C
ENST00000675004.1:c.*2048+1G>C	ENSP00000501868.1:n.*2048+1G>C
ENST00000675009.1:c.*1480+1G>C	ENSP00000502098.1:n.*1480+1G>C
ENST00000675096.1:c.1890-3144G>C	ENSP00000502116.1:n.1890-3144G>C
ENST00000675122.1:c.*203+1G>C	ENSP00000501810.1:n.*203+1G>C
ENST00000675153.1:c.*813+1G>C	ENSP00000501682.1:n.*813+1G>C
ENST00000675272.1:n.6394+1G>C
ENST00000675284.1:c.2096+1G>C	ENSP00000502758.1:n.2096+1G>C
ENST00000675301.1:n.753+1G>C
ENST00000675311.1:c.*1298+1G>C	ENSP00000501961.1:n.*1298+1G>C
ENST00000675426.1:c.*1164+1G>C	ENSP00000501819.1:n.*1164+1G>C
ENST00000675523.1:c.1865+1G>C	ENSP00000502384.1:n.1865+1G>C
ENST00000675552.1:c.*1216G>C	ENSP00000502197.1:n.*1216G>C
ENST00000675714.1:c.2096+1G>C	ENSP00000502561.1:n.2096+1G>C
ENST00000675726.1:c.2096+1G>C	ENSP00000502452.1:n.2096+1G>C
ENST00000675772.1:c.2096+1G>C	ENSP00000501678.1:n.2096+1G>C
ENST00000675831.1:c.1703+1G>C	ENSP00000502382.1:n.1703+1G>C
ENST00000675849.1:n.1718+1G>C
ENST00000675879.1:c.825+1G>C
ENST00000675887.1:c.*1699+1G>C	ENSP00000502123.1:n.*1699+1G>C
ENST00000675954.1:n.3429+1G>C
ENST00000675991.1:c.*1215+1G>C	ENSP00000502162.1:n.*1215+1G>C
ENST00000675994.1:c.*1076+1G>C	ENSP00000502419.1:n.*1076+1G>C
ENST00000676021.1:c.*674+1G>C	ENSP00000502746.1:n.*674+1G>C
ENST00000676037.1:c.2096+1G>C	ENSP00000502181.1:n.2096+1G>C
ENST00000676136.1:n.2237G>C
ENST00000676442.1:c.1967+1G>C	ENSP00000502595.1:n.1967+1G>C
ENST00000230124.7:c.2096+1G>C	ENSP00000230124.3:n.2096+1G>C
ENST00000419951.1:c.17+1G>C	ENSP00000396566.1:n.17+1G>C
NM_014845.5:c.2096+1G>C , LRG_241t1:c.2096+1G>C	NP_055660.1:n.2096+1G>C
XM_011536281.1:c.2033+1G>C	XP_011534583.1:n.2033+1G>C
XM_011536281.3:c.2033+1G>C	XP_011534583.1:n.2033+1G>C
XM_017011591.2:c.2096+1G>C	XP_016867080.1:n.2096+1G>C
XM_017011592.1:c.1547+1G>C	XP_016867081.1:n.1547+1G>C
XM_017011593.2:c.1166+1G>C	XP_016867082.1:n.1166+1G>C
NM_014845.6:c.2096+1G>C MANE Select	NP_055660.1:n.2096+1G>C