Canonical Allele Identifier: CA451754589

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792653-C-A
• MyVariant Identifiers: chr6:g.110113856C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792653C>A , CM000668.2:g.109792653C>A	GRCh38
NC_000006.11:g.110113856C>A , CM000668.1:g.110113856C>A	GRCh37
NC_000006.10:g.110220549C>A	NCBI36
NG_007977.1:g.106433C>A , LRG_241:g.106433C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2448C>A MANE Select	ENSP00000230124.4:p.Ser816=
ENST00000415980.2:c.954C>A	ENSP00000405660.2:p.Ser318=
ENST00000419951.2:n.796C>A
ENST00000674532.1:n.5644C>A
ENST00000674557.1:c.*1741C>A	ENSP00000501608.1:n.*1741C>A
ENST00000674569.1:c.*1567C>A	ENSP00000502769.1:n.*1567C>A
ENST00000674571.1:c.*1567C>A	ENSP00000501633.1:n.*1567C>A
ENST00000674575.1:c.*1567C>A	ENSP00000502276.1:n.*1567C>A
ENST00000674641.1:c.2103C>A	ENSP00000501609.1:p.Ser701=
ENST00000674649.1:c.*2141C>A	ENSP00000501669.1:n.*2141C>A
ENST00000674657.1:c.*1880C>A	ENSP00000502314.1:n.*1880C>A
ENST00000674744.1:c.2442C>A	ENSP00000501661.1:p.Ser814=
ENST00000674778.1:c.*1666C>A	ENSP00000502742.1:n.*1666C>A
ENST00000674783.1:c.*1363C>A	ENSP00000502755.1:n.*1363C>A
ENST00000674884.1:c.2466C>A	ENSP00000502668.1:p.Ser822=
ENST00000674930.1:c.*1573C>A	ENSP00000502657.1:n.*1573C>A
ENST00000674933.1:c.2217C>A	ENSP00000502376.1:p.Ser739=
ENST00000674956.1:c.*1662C>A	ENSP00000501904.1:n.*1662C>A
ENST00000675004.1:c.*2400C>A	ENSP00000501868.1:n.*2400C>A
ENST00000675009.1:c.*1832C>A	ENSP00000502098.1:n.*1832C>A
ENST00000675096.1:c.2241C>A	ENSP00000502116.1:p.Ser747=
ENST00000675122.1:c.*555C>A	ENSP00000501810.1:n.*555C>A
ENST00000675153.1:c.*1165C>A	ENSP00000501682.1:n.*1165C>A
ENST00000675254.1:n.3907C>A
ENST00000675272.1:n.6746C>A
ENST00000675284.1:c.2448C>A	ENSP00000502758.1:p.Ser816=
ENST00000675301.1:n.1105C>A
ENST00000675311.1:c.*1650C>A	ENSP00000501961.1:n.*1650C>A
ENST00000675426.1:c.*1516C>A	ENSP00000501819.1:n.*1516C>A
ENST00000675523.1:c.2217C>A	ENSP00000502384.1:p.Ser739=
ENST00000675552.1:c.*4711C>A	ENSP00000502197.1:n.*4711C>A
ENST00000675726.1:c.2448C>A	ENSP00000502452.1:p.Ser816=
ENST00000675772.1:c.2448C>A	ENSP00000501678.1:p.Ser816=
ENST00000675831.1:c.2055C>A	ENSP00000502382.1:p.Ser685=
ENST00000675849.1:n.2070C>A
ENST00000675879.1:c.1293C>A
ENST00000675954.1:n.3781C>A
ENST00000675991.1:c.*4275C>A	ENSP00000502162.1:n.*4275C>A
ENST00000675994.1:c.*1587C>A	ENSP00000502419.1:n.*1587C>A
ENST00000676021.1:c.*1026C>A	ENSP00000502746.1:n.*1026C>A
ENST00000676037.1:c.*375C>A	ENSP00000502181.1:n.*375C>A
ENST00000676136.1:n.5095C>A
ENST00000676246.1:n.338C>A
ENST00000676442.1:c.2319C>A	ENSP00000502595.1:p.Ser773=
ENST00000230124.7:c.2448C>A	ENSP00000230124.3:p.Ser816=
NM_014845.5:c.2448C>A , LRG_241t1:c.2448C>A	NP_055660.1:p.Ser816=
XM_011536281.1:c.2385C>A	XP_011534583.1:p.Ser795=
XM_011536281.3:c.2385C>A	XP_011534583.1:p.Ser795=
XM_017011592.1:c.1899C>A	XP_016867081.1:p.Ser633=
XM_017011593.2:c.1518C>A	XP_016867082.1:p.Ser506=
NM_014845.6:c.2448C>A MANE Select	NP_055660.1:p.Ser816=