Canonical Allele Identifier: CA365217951

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110113862T>G (hg19) ; chr6:g.109792659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792659T>G , CM000668.2:g.109792659T>G	GRCh38
NC_000006.11:g.110113862T>G , CM000668.1:g.110113862T>G	GRCh37
NC_000006.10:g.110220555T>G	NCBI36
NG_007977.1:g.106439T>G , LRG_241:g.106439T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.2454T>G MANE Select	ENSP00000230124.4:p.Tyr818Ter
ENST00000415980.2:c.960T>G	ENSP00000405660.2:p.Tyr320Ter
ENST00000419951.2:n.802T>G
ENST00000674532.1:n.5650T>G
ENST00000674557.1:c.*1747T>G	ENSP00000501608.1:n.*1747T>G
ENST00000674569.1:c.*1573T>G	ENSP00000502769.1:n.*1573T>G
ENST00000674571.1:c.*1573T>G	ENSP00000501633.1:n.*1573T>G
ENST00000674575.1:c.*1573T>G	ENSP00000502276.1:n.*1573T>G
ENST00000674641.1:c.2109T>G	ENSP00000501609.1:p.Tyr703Ter
ENST00000674649.1:c.*2147T>G	ENSP00000501669.1:n.*2147T>G
ENST00000674657.1:c.*1886T>G	ENSP00000502314.1:n.*1886T>G
ENST00000674744.1:c.2448T>G	ENSP00000501661.1:p.Tyr816Ter
ENST00000674778.1:c.*1672T>G	ENSP00000502742.1:n.*1672T>G
ENST00000674783.1:c.*1369T>G	ENSP00000502755.1:n.*1369T>G
ENST00000674884.1:c.2472T>G	ENSP00000502668.1:p.Tyr824Ter
ENST00000674930.1:c.*1579T>G	ENSP00000502657.1:n.*1579T>G
ENST00000674933.1:c.2223T>G	ENSP00000502376.1:p.Tyr741Ter
ENST00000674956.1:c.*1668T>G	ENSP00000501904.1:n.*1668T>G
ENST00000675004.1:c.*2406T>G	ENSP00000501868.1:n.*2406T>G
ENST00000675009.1:c.*1838T>G	ENSP00000502098.1:n.*1838T>G
ENST00000675096.1:c.2247T>G	ENSP00000502116.1:p.Tyr749Ter
ENST00000675122.1:c.*561T>G	ENSP00000501810.1:n.*561T>G
ENST00000675153.1:c.*1171T>G	ENSP00000501682.1:n.*1171T>G
ENST00000675254.1:n.3913T>G
ENST00000675272.1:n.6752T>G
ENST00000675284.1:c.2454T>G	ENSP00000502758.1:p.Tyr818Ter
ENST00000675301.1:n.1111T>G
ENST00000675311.1:c.*1656T>G	ENSP00000501961.1:n.*1656T>G
ENST00000675426.1:c.*1522T>G	ENSP00000501819.1:n.*1522T>G
ENST00000675523.1:c.2223T>G	ENSP00000502384.1:p.Tyr741Ter
ENST00000675552.1:c.*4717T>G	ENSP00000502197.1:n.*4717T>G
ENST00000675726.1:c.2454T>G	ENSP00000502452.1:p.Tyr818Ter
ENST00000675772.1:c.2454T>G	ENSP00000501678.1:p.Tyr818Ter
ENST00000675831.1:c.2061T>G	ENSP00000502382.1:p.Tyr687Ter
ENST00000675849.1:n.2076T>G
ENST00000675879.1:c.1299T>G
ENST00000675954.1:n.3787T>G
ENST00000675991.1:c.*4281T>G	ENSP00000502162.1:n.*4281T>G
ENST00000675994.1:c.*1593T>G	ENSP00000502419.1:n.*1593T>G
ENST00000676021.1:c.*1032T>G	ENSP00000502746.1:n.*1032T>G
ENST00000676037.1:c.*381T>G	ENSP00000502181.1:n.*381T>G
ENST00000676136.1:n.5101T>G
ENST00000676246.1:n.344T>G
ENST00000676442.1:c.2325T>G	ENSP00000502595.1:p.Tyr775Ter
ENST00000230124.7:c.2454T>G	ENSP00000230124.3:p.Tyr818Ter
NM_014845.5:c.2454T>G , LRG_241t1:c.2454T>G	NP_055660.1:p.Tyr818Ter
XM_011536281.1:c.2391T>G	XP_011534583.1:p.Tyr797Ter
XM_011536281.3:c.2391T>G	XP_011534583.1:p.Tyr797Ter
XM_017011592.1:c.1905T>G	XP_016867081.1:p.Tyr635Ter
XM_017011593.2:c.1524T>G	XP_016867082.1:p.Tyr508Ter
NM_014845.6:c.2454T>G MANE Select	NP_055660.1:p.Tyr818Ter