Canonical Allele Identifier: CA270671

Gene: FIG4

Linked Data

• ClinVar Variation Id: 156014
• ClinVar RCV Id: RCV000144071 ; RCV000697297 ; RCV003447113
• dbSNP Id: rs587777713
• gnomAD v2: 6-110012688-T-C
• gnomAD v3: 6-109691485-T-C
• gnomAD v4: 6-109691485-T-C
• MyVariant Identifiers: chr6:g.110012688T>C (hg19) ; chr6:g.109691485T>C (hg38)
• PubMed: PMID:21705420

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109691485T>C , CM000668.2:g.109691485T>C	GRCh38
NC_000006.11:g.110012688T>C , CM000668.1:g.110012688T>C	GRCh37
NC_000006.10:g.110119381T>C	NCBI36
NG_007977.1:g.5265T>C , LRG_241:g.5265T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230124.8:c.50T>C MANE Select	ENSP00000230124.4:p.Leu17Pro
ENST00000368941.2:c.50T>C	ENSP00000357937.2:p.Leu17Pro
ENST00000415980.2:c.-240T>C	ENSP00000405660.2:n.-240T>C
ENST00000454215.6:c.50T>C	ENSP00000412156.2:p.Leu17Pro
ENST00000674532.1:n.220T>C
ENST00000674557.1:c.50T>C	ENSP00000501608.1:p.Leu17Pro
ENST00000674569.1:c.50T>C	ENSP00000502769.1:p.Leu17Pro
ENST00000674571.1:c.50T>C	ENSP00000501633.1:p.Leu17Pro
ENST00000674575.1:c.50T>C	ENSP00000502276.1:p.Leu17Pro
ENST00000674614.1:n.174T>C
ENST00000674641.1:c.-73T>C	ENSP00000501609.1:n.-73T>C
ENST00000674644.1:c.-271T>C	ENSP00000502201.1:n.-271T>C
ENST00000674649.1:c.50T>C	ENSP00000501669.1:p.Leu17Pro
ENST00000674657.1:c.50T>C	ENSP00000502314.1:p.Leu17Pro
ENST00000674744.1:c.50T>C	ENSP00000501661.1:p.Leu17Pro
ENST00000674778.1:c.50T>C	ENSP00000502742.1:p.Leu17Pro
ENST00000674783.1:c.50T>C	ENSP00000502755.1:p.Leu17Pro
ENST00000674830.1:n.21T>C
ENST00000674884.1:c.50T>C	ENSP00000502668.1:p.Leu17Pro
ENST00000674930.1:c.50T>C	ENSP00000502657.1:p.Leu17Pro
ENST00000674933.1:c.-180T>C	ENSP00000502376.1:n.-180T>C
ENST00000674956.1:c.50T>C	ENSP00000501904.1:p.Leu17Pro
ENST00000675004.1:c.50T>C	ENSP00000501868.1:p.Leu17Pro
ENST00000675009.1:c.50T>C	ENSP00000502098.1:p.Leu17Pro
ENST00000675096.1:c.50T>C	ENSP00000502116.1:p.Leu17Pro
ENST00000675115.1:n.183T>C
ENST00000675122.1:c.50T>C	ENSP00000501810.1:p.Leu17Pro
ENST00000675153.1:c.50T>C	ENSP00000501682.1:p.Leu17Pro
ENST00000675284.1:c.50T>C	ENSP00000502758.1:p.Leu17Pro
ENST00000675311.1:c.50T>C	ENSP00000501961.1:p.Leu17Pro
ENST00000675426.1:c.50T>C	ENSP00000501819.1:p.Leu17Pro
ENST00000675523.1:c.-180T>C	ENSP00000502384.1:n.-180T>C
ENST00000675552.1:c.50T>C	ENSP00000502197.1:p.Leu17Pro
ENST00000675606.1:c.-258T>C	ENSP00000501583.1:n.-258T>C
ENST00000675681.1:c.50T>C	ENSP00000502705.1:p.Leu17Pro
ENST00000675714.1:c.50T>C	ENSP00000502561.1:p.Leu17Pro
ENST00000675726.1:c.50T>C	ENSP00000502452.1:p.Leu17Pro
ENST00000675772.1:c.50T>C	ENSP00000501678.1:p.Leu17Pro
ENST00000675831.1:c.50T>C	ENSP00000502382.1:p.Leu17Pro
ENST00000675844.1:c.-166+571T>C	ENSP00000502353.1:n.-166+571T>C
ENST00000675847.1:n.174T>C
ENST00000675887.1:c.50T>C	ENSP00000502123.1:p.Leu17Pro
ENST00000675973.1:c.50T>C	ENSP00000502407.1:p.Leu17Pro
ENST00000675991.1:c.50T>C	ENSP00000502162.1:p.Leu17Pro
ENST00000675994.1:c.50T>C	ENSP00000502419.1:p.Leu17Pro
ENST00000676021.1:c.50T>C	ENSP00000502746.1:p.Leu17Pro
ENST00000676037.1:c.50T>C	ENSP00000502181.1:p.Leu17Pro
ENST00000676136.1:n.190T>C
ENST00000676435.1:c.50T>C	ENSP00000502614.1:p.Leu17Pro
ENST00000676442.1:c.50T>C	ENSP00000502595.1:p.Leu17Pro
ENST00000230124.7:c.50T>C	ENSP00000230124.3:p.Leu17Pro
NM_014845.5:c.50T>C , LRG_241t1:c.50T>C	NP_055660.1:p.Leu17Pro
XM_017011591.2:c.50T>C	XP_016867080.1:p.Leu17Pro
XM_017011592.1:c.-343T>C	XP_016867081.1:n.-343T>C
XM_017011593.2:c.-651T>C	XP_016867082.1:n.-651T>C
NM_014845.6:c.50T>C MANE Select	NP_055660.1:p.Leu17Pro