Canonical Allele Identifier: CA451754587

Gene: FIG4

Linked Data

• gnomAD v4: 6-109792647-T-C
• MyVariant Identifiers: chr6:g.110113850T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109792647T>C , CM000668.2:g.109792647T>C	GRCh38
NC_000006.11:g.110113850T>C , CM000668.1:g.110113850T>C	GRCh37
NC_000006.10:g.110220543T>C	NCBI36
NG_007977.1:g.106427T>C , LRG_241:g.106427T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.2442T>C MANE Select	ENSP00000230124.4:p.Asp814=
ENST00000415980.2:c.948T>C	ENSP00000405660.2:p.Asp316=
ENST00000419951.2:n.790T>C
ENST00000674532.1:n.5638T>C
ENST00000674557.1:c.*1735T>C	ENSP00000501608.1:n.*1735T>C
ENST00000674569.1:c.*1561T>C	ENSP00000502769.1:n.*1561T>C
ENST00000674571.1:c.*1561T>C	ENSP00000501633.1:n.*1561T>C
ENST00000674575.1:c.*1561T>C	ENSP00000502276.1:n.*1561T>C
ENST00000674641.1:c.2097T>C	ENSP00000501609.1:p.Asp699=
ENST00000674649.1:c.*2135T>C	ENSP00000501669.1:n.*2135T>C
ENST00000674657.1:c.*1874T>C	ENSP00000502314.1:n.*1874T>C
ENST00000674744.1:c.2436T>C	ENSP00000501661.1:p.Asp812=
ENST00000674778.1:c.*1660T>C	ENSP00000502742.1:n.*1660T>C
ENST00000674783.1:c.*1357T>C	ENSP00000502755.1:n.*1357T>C
ENST00000674884.1:c.2460T>C	ENSP00000502668.1:p.Asp820=
ENST00000674930.1:c.*1567T>C	ENSP00000502657.1:n.*1567T>C
ENST00000674933.1:c.2211T>C	ENSP00000502376.1:p.Asp737=
ENST00000674956.1:c.*1656T>C	ENSP00000501904.1:n.*1656T>C
ENST00000675004.1:c.*2394T>C	ENSP00000501868.1:n.*2394T>C
ENST00000675009.1:c.*1826T>C	ENSP00000502098.1:n.*1826T>C
ENST00000675096.1:c.2235T>C	ENSP00000502116.1:p.Asp745=
ENST00000675122.1:c.*549T>C	ENSP00000501810.1:n.*549T>C
ENST00000675153.1:c.*1159T>C	ENSP00000501682.1:n.*1159T>C
ENST00000675254.1:n.3901T>C
ENST00000675272.1:n.6740T>C
ENST00000675284.1:c.2442T>C	ENSP00000502758.1:p.Asp814=
ENST00000675301.1:n.1099T>C
ENST00000675311.1:c.*1644T>C	ENSP00000501961.1:n.*1644T>C
ENST00000675426.1:c.*1510T>C	ENSP00000501819.1:n.*1510T>C
ENST00000675523.1:c.2211T>C	ENSP00000502384.1:p.Asp737=
ENST00000675552.1:c.*4705T>C	ENSP00000502197.1:n.*4705T>C
ENST00000675726.1:c.2442T>C	ENSP00000502452.1:p.Asp814=
ENST00000675772.1:c.2442T>C	ENSP00000501678.1:p.Asp814=
ENST00000675831.1:c.2049T>C	ENSP00000502382.1:p.Asp683=
ENST00000675849.1:n.2064T>C
ENST00000675879.1:c.1287T>C
ENST00000675954.1:n.3775T>C
ENST00000675991.1:c.*4269T>C	ENSP00000502162.1:n.*4269T>C
ENST00000675994.1:c.*1581T>C	ENSP00000502419.1:n.*1581T>C
ENST00000676021.1:c.*1020T>C	ENSP00000502746.1:n.*1020T>C
ENST00000676037.1:c.*369T>C	ENSP00000502181.1:n.*369T>C
ENST00000676136.1:n.5089T>C
ENST00000676246.1:n.332T>C
ENST00000676442.1:c.2313T>C	ENSP00000502595.1:p.Asp771=
ENST00000230124.7:c.2442T>C	ENSP00000230124.3:p.Asp814=
NM_014845.5:c.2442T>C , LRG_241t1:c.2442T>C	NP_055660.1:p.Asp814=
XM_011536281.1:c.2379T>C	XP_011534583.1:p.Asp793=
XM_011536281.3:c.2379T>C	XP_011534583.1:p.Asp793=
XM_017011592.1:c.1893T>C	XP_016867081.1:p.Asp631=
XM_017011593.2:c.1512T>C	XP_016867082.1:p.Asp504=
NM_014845.6:c.2442T>C MANE Select	NP_055660.1:p.Asp814=