Canonical Allele Identifier: CA365217985

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113867G>C (hg19) ; chr6:g.109792664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792664G>C , CM000668.2:g.109792664G>C	GRCh38
NC_000006.11:g.110113867G>C , CM000668.1:g.110113867G>C	GRCh37
NC_000006.10:g.110220560G>C	NCBI36
NG_007977.1:g.106444G>C , LRG_241:g.106444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2459G>C MANE Select	ENSP00000230124.4:p.Arg820Thr
ENST00000415980.2:c.965G>C	ENSP00000405660.2:p.Arg322Thr
ENST00000419951.2:n.807G>C
ENST00000674532.1:n.5655G>C
ENST00000674557.1:c.*1752G>C	ENSP00000501608.1:n.*1752G>C
ENST00000674569.1:c.*1578G>C	ENSP00000502769.1:n.*1578G>C
ENST00000674571.1:c.*1578G>C	ENSP00000501633.1:n.*1578G>C
ENST00000674575.1:c.*1578G>C	ENSP00000502276.1:n.*1578G>C
ENST00000674641.1:c.2114G>C	ENSP00000501609.1:p.Arg705Thr
ENST00000674649.1:c.*2152G>C	ENSP00000501669.1:n.*2152G>C
ENST00000674657.1:c.*1891G>C	ENSP00000502314.1:n.*1891G>C
ENST00000674744.1:c.2453G>C	ENSP00000501661.1:p.Arg818Thr
ENST00000674778.1:c.*1677G>C	ENSP00000502742.1:n.*1677G>C
ENST00000674783.1:c.*1374G>C	ENSP00000502755.1:n.*1374G>C
ENST00000674884.1:c.2477G>C	ENSP00000502668.1:p.Arg826Thr
ENST00000674930.1:c.*1584G>C	ENSP00000502657.1:n.*1584G>C
ENST00000674933.1:c.2228G>C	ENSP00000502376.1:p.Arg743Thr
ENST00000674956.1:c.*1673G>C	ENSP00000501904.1:n.*1673G>C
ENST00000675004.1:c.*2411G>C	ENSP00000501868.1:n.*2411G>C
ENST00000675009.1:c.*1843G>C	ENSP00000502098.1:n.*1843G>C
ENST00000675096.1:c.2252G>C	ENSP00000502116.1:p.Arg751Thr
ENST00000675122.1:c.*566G>C	ENSP00000501810.1:n.*566G>C
ENST00000675153.1:c.*1176G>C	ENSP00000501682.1:n.*1176G>C
ENST00000675254.1:n.3918G>C
ENST00000675272.1:n.6757G>C
ENST00000675284.1:c.2459G>C	ENSP00000502758.1:p.Arg820Thr
ENST00000675301.1:n.1116G>C
ENST00000675311.1:c.*1661G>C	ENSP00000501961.1:n.*1661G>C
ENST00000675426.1:c.*1527G>C	ENSP00000501819.1:n.*1527G>C
ENST00000675523.1:c.2228G>C	ENSP00000502384.1:p.Arg743Thr
ENST00000675552.1:c.*4722G>C	ENSP00000502197.1:n.*4722G>C
ENST00000675726.1:c.2459G>C	ENSP00000502452.1:p.Arg820Thr
ENST00000675772.1:c.2459G>C	ENSP00000501678.1:p.Arg820Thr
ENST00000675831.1:c.2066G>C	ENSP00000502382.1:p.Arg689Thr
ENST00000675849.1:n.2081G>C
ENST00000675879.1:c.1304G>C
ENST00000675954.1:n.3792G>C
ENST00000675991.1:c.*4286G>C	ENSP00000502162.1:n.*4286G>C
ENST00000675994.1:c.*1598G>C	ENSP00000502419.1:n.*1598G>C
ENST00000676021.1:c.*1037G>C	ENSP00000502746.1:n.*1037G>C
ENST00000676037.1:c.*386G>C	ENSP00000502181.1:n.*386G>C
ENST00000676136.1:n.5106G>C
ENST00000676246.1:n.349G>C
ENST00000676442.1:c.2330G>C	ENSP00000502595.1:p.Arg777Thr
ENST00000230124.7:c.2459G>C	ENSP00000230124.3:p.Arg820Thr
NM_014845.5:c.2459G>C , LRG_241t1:c.2459G>C	NP_055660.1:p.Arg820Thr
XM_011536281.1:c.2396G>C	XP_011534583.1:p.Arg799Thr
XM_011536281.3:c.2396G>C	XP_011534583.1:p.Arg799Thr
XM_017011592.1:c.1910G>C	XP_016867081.1:p.Arg637Thr
XM_017011593.2:c.1529G>C	XP_016867082.1:p.Arg510Thr
NM_014845.6:c.2459G>C MANE Select	NP_055660.1:p.Arg820Thr