Canonical Allele Identifier: CA365217922

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792655-T-C
• MyVariant Identifiers: chr6:g.110113858T>C (hg19) ; chr6:g.109792655T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792655T>C , CM000668.2:g.109792655T>C	GRCh38
NC_000006.11:g.110113858T>C , CM000668.1:g.110113858T>C	GRCh37
NC_000006.10:g.110220551T>C	NCBI36
NG_007977.1:g.106435T>C , LRG_241:g.106435T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2450T>C MANE Select	ENSP00000230124.4:p.Ile817Thr
ENST00000415980.2:c.956T>C	ENSP00000405660.2:p.Ile319Thr
ENST00000419951.2:n.798T>C
ENST00000674532.1:n.5646T>C
ENST00000674557.1:c.*1743T>C	ENSP00000501608.1:n.*1743T>C
ENST00000674569.1:c.*1569T>C	ENSP00000502769.1:n.*1569T>C
ENST00000674571.1:c.*1569T>C	ENSP00000501633.1:n.*1569T>C
ENST00000674575.1:c.*1569T>C	ENSP00000502276.1:n.*1569T>C
ENST00000674641.1:c.2105T>C	ENSP00000501609.1:p.Ile702Thr
ENST00000674649.1:c.*2143T>C	ENSP00000501669.1:n.*2143T>C
ENST00000674657.1:c.*1882T>C	ENSP00000502314.1:n.*1882T>C
ENST00000674744.1:c.2444T>C	ENSP00000501661.1:p.Ile815Thr
ENST00000674778.1:c.*1668T>C	ENSP00000502742.1:n.*1668T>C
ENST00000674783.1:c.*1365T>C	ENSP00000502755.1:n.*1365T>C
ENST00000674884.1:c.2468T>C	ENSP00000502668.1:p.Ile823Thr
ENST00000674930.1:c.*1575T>C	ENSP00000502657.1:n.*1575T>C
ENST00000674933.1:c.2219T>C	ENSP00000502376.1:p.Ile740Thr
ENST00000674956.1:c.*1664T>C	ENSP00000501904.1:n.*1664T>C
ENST00000675004.1:c.*2402T>C	ENSP00000501868.1:n.*2402T>C
ENST00000675009.1:c.*1834T>C	ENSP00000502098.1:n.*1834T>C
ENST00000675096.1:c.2243T>C	ENSP00000502116.1:p.Ile748Thr
ENST00000675122.1:c.*557T>C	ENSP00000501810.1:n.*557T>C
ENST00000675153.1:c.*1167T>C	ENSP00000501682.1:n.*1167T>C
ENST00000675254.1:n.3909T>C
ENST00000675272.1:n.6748T>C
ENST00000675284.1:c.2450T>C	ENSP00000502758.1:p.Ile817Thr
ENST00000675301.1:n.1107T>C
ENST00000675311.1:c.*1652T>C	ENSP00000501961.1:n.*1652T>C
ENST00000675426.1:c.*1518T>C	ENSP00000501819.1:n.*1518T>C
ENST00000675523.1:c.2219T>C	ENSP00000502384.1:p.Ile740Thr
ENST00000675552.1:c.*4713T>C	ENSP00000502197.1:n.*4713T>C
ENST00000675726.1:c.2450T>C	ENSP00000502452.1:p.Ile817Thr
ENST00000675772.1:c.2450T>C	ENSP00000501678.1:p.Ile817Thr
ENST00000675831.1:c.2057T>C	ENSP00000502382.1:p.Ile686Thr
ENST00000675849.1:n.2072T>C
ENST00000675879.1:c.1295T>C
ENST00000675954.1:n.3783T>C
ENST00000675991.1:c.*4277T>C	ENSP00000502162.1:n.*4277T>C
ENST00000675994.1:c.*1589T>C	ENSP00000502419.1:n.*1589T>C
ENST00000676021.1:c.*1028T>C	ENSP00000502746.1:n.*1028T>C
ENST00000676037.1:c.*377T>C	ENSP00000502181.1:n.*377T>C
ENST00000676136.1:n.5097T>C
ENST00000676246.1:n.340T>C
ENST00000676442.1:c.2321T>C	ENSP00000502595.1:p.Ile774Thr
ENST00000230124.7:c.2450T>C	ENSP00000230124.3:p.Ile817Thr
NM_014845.5:c.2450T>C , LRG_241t1:c.2450T>C	NP_055660.1:p.Ile817Thr
XM_011536281.1:c.2387T>C	XP_011534583.1:p.Ile796Thr
XM_011536281.3:c.2387T>C	XP_011534583.1:p.Ile796Thr
XM_017011592.1:c.1901T>C	XP_016867081.1:p.Ile634Thr
XM_017011593.2:c.1520T>C	XP_016867082.1:p.Ile507Thr
NM_014845.6:c.2450T>C MANE Select	NP_055660.1:p.Ile817Thr