Canonical Allele Identifier: CA365217911

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113857A>C (hg19) ; chr6:g.109792654A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792654A>C , CM000668.2:g.109792654A>C	GRCh38
NC_000006.11:g.110113857A>C , CM000668.1:g.110113857A>C	GRCh37
NC_000006.10:g.110220550A>C	NCBI36
NG_007977.1:g.106434A>C , LRG_241:g.106434A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2449A>C MANE Select	ENSP00000230124.4:p.Ile817Leu
ENST00000415980.2:c.955A>C	ENSP00000405660.2:p.Ile319Leu
ENST00000419951.2:n.797A>C
ENST00000674532.1:n.5645A>C
ENST00000674557.1:c.*1742A>C	ENSP00000501608.1:n.*1742A>C
ENST00000674569.1:c.*1568A>C	ENSP00000502769.1:n.*1568A>C
ENST00000674571.1:c.*1568A>C	ENSP00000501633.1:n.*1568A>C
ENST00000674575.1:c.*1568A>C	ENSP00000502276.1:n.*1568A>C
ENST00000674641.1:c.2104A>C	ENSP00000501609.1:p.Ile702Leu
ENST00000674649.1:c.*2142A>C	ENSP00000501669.1:n.*2142A>C
ENST00000674657.1:c.*1881A>C	ENSP00000502314.1:n.*1881A>C
ENST00000674744.1:c.2443A>C	ENSP00000501661.1:p.Ile815Leu
ENST00000674778.1:c.*1667A>C	ENSP00000502742.1:n.*1667A>C
ENST00000674783.1:c.*1364A>C	ENSP00000502755.1:n.*1364A>C
ENST00000674884.1:c.2467A>C	ENSP00000502668.1:p.Ile823Leu
ENST00000674930.1:c.*1574A>C	ENSP00000502657.1:n.*1574A>C
ENST00000674933.1:c.2218A>C	ENSP00000502376.1:p.Ile740Leu
ENST00000674956.1:c.*1663A>C	ENSP00000501904.1:n.*1663A>C
ENST00000675004.1:c.*2401A>C	ENSP00000501868.1:n.*2401A>C
ENST00000675009.1:c.*1833A>C	ENSP00000502098.1:n.*1833A>C
ENST00000675096.1:c.2242A>C	ENSP00000502116.1:p.Ile748Leu
ENST00000675122.1:c.*556A>C	ENSP00000501810.1:n.*556A>C
ENST00000675153.1:c.*1166A>C	ENSP00000501682.1:n.*1166A>C
ENST00000675254.1:n.3908A>C
ENST00000675272.1:n.6747A>C
ENST00000675284.1:c.2449A>C	ENSP00000502758.1:p.Ile817Leu
ENST00000675301.1:n.1106A>C
ENST00000675311.1:c.*1651A>C	ENSP00000501961.1:n.*1651A>C
ENST00000675426.1:c.*1517A>C	ENSP00000501819.1:n.*1517A>C
ENST00000675523.1:c.2218A>C	ENSP00000502384.1:p.Ile740Leu
ENST00000675552.1:c.*4712A>C	ENSP00000502197.1:n.*4712A>C
ENST00000675726.1:c.2449A>C	ENSP00000502452.1:p.Ile817Leu
ENST00000675772.1:c.2449A>C	ENSP00000501678.1:p.Ile817Leu
ENST00000675831.1:c.2056A>C	ENSP00000502382.1:p.Ile686Leu
ENST00000675849.1:n.2071A>C
ENST00000675879.1:c.1294A>C
ENST00000675954.1:n.3782A>C
ENST00000675991.1:c.*4276A>C	ENSP00000502162.1:n.*4276A>C
ENST00000675994.1:c.*1588A>C	ENSP00000502419.1:n.*1588A>C
ENST00000676021.1:c.*1027A>C	ENSP00000502746.1:n.*1027A>C
ENST00000676037.1:c.*376A>C	ENSP00000502181.1:n.*376A>C
ENST00000676136.1:n.5096A>C
ENST00000676246.1:n.339A>C
ENST00000676442.1:c.2320A>C	ENSP00000502595.1:p.Ile774Leu
ENST00000230124.7:c.2449A>C	ENSP00000230124.3:p.Ile817Leu
NM_014845.5:c.2449A>C , LRG_241t1:c.2449A>C	NP_055660.1:p.Ile817Leu
XM_011536281.1:c.2386A>C	XP_011534583.1:p.Ile796Leu
XM_011536281.3:c.2386A>C	XP_011534583.1:p.Ile796Leu
XM_017011592.1:c.1900A>C	XP_016867081.1:p.Ile634Leu
XM_017011593.2:c.1519A>C	XP_016867082.1:p.Ile507Leu
NM_014845.6:c.2449A>C MANE Select	NP_055660.1:p.Ile817Leu