Canonical Allele Identifier: CA365220705

Gene: FIG4

Linked Data

• MyVariant Identifiers: chr6:g.110059625G>C (hg19) ; chr6:g.109738422G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109738422G>C , CM000668.2:g.109738422G>C	GRCh38
NC_000006.11:g.110059625G>C , CM000668.1:g.110059625G>C	GRCh37
NC_000006.10:g.110166318G>C	NCBI36
NG_007977.1:g.52202G>C , LRG_241:g.52202G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000230124.8:c.744G>C MANE Select	ENSP00000230124.4:p.Leu248Phe
ENST00000368941.2:c.646+3124G>C	ENSP00000357937.2:n.646+3124G>C
ENST00000415980.2:c.-223-23669G>C	ENSP00000405660.2:n.-223-23669G>C
ENST00000454215.6:c.744G>C	ENSP00000412156.2:p.Leu248Phe
ENST00000674532.1:n.3940G>C
ENST00000674557.1:c.*176G>C	ENSP00000501608.1:n.*176G>C
ENST00000674569.1:c.646+3124G>C	ENSP00000502769.1:n.646+3124G>C
ENST00000674571.1:c.646+3124G>C	ENSP00000501633.1:n.646+3124G>C
ENST00000674575.1:c.640+3124G>C	ENSP00000502276.1:n.640+3124G>C
ENST00000674641.1:c.399G>C	ENSP00000501609.1:p.Leu133Phe
ENST00000674644.1:c.-55+3124G>C	ENSP00000502201.1:n.-55+3124G>C
ENST00000674649.1:c.*437G>C	ENSP00000501669.1:n.*437G>C
ENST00000674657.1:c.*176G>C	ENSP00000502314.1:n.*176G>C
ENST00000674744.1:c.738G>C	ENSP00000501661.1:p.Leu246Phe
ENST00000674778.1:c.646+3124G>C	ENSP00000502742.1:n.646+3124G>C
ENST00000674783.1:c.744G>C	ENSP00000502755.1:p.Leu248Phe
ENST00000674830.1:n.715G>C
ENST00000674884.1:c.762G>C	ENSP00000502668.1:p.Leu254Phe
ENST00000674930.1:c.*164+3124G>C	ENSP00000502657.1:n.*164+3124G>C
ENST00000674933.1:c.513G>C	ENSP00000502376.1:p.Leu171Phe
ENST00000674956.1:c.646+3124G>C	ENSP00000501904.1:n.646+3124G>C
ENST00000675002.1:n.832G>C
ENST00000675004.1:c.*696G>C	ENSP00000501868.1:n.*696G>C
ENST00000675009.1:c.*262G>C	ENSP00000502098.1:n.*262G>C
ENST00000675096.1:c.744G>C	ENSP00000502116.1:p.Leu248Phe
ENST00000675122.1:c.744G>C	ENSP00000501810.1:p.Leu248Phe
ENST00000675153.1:c.744G>C	ENSP00000501682.1:p.Leu248Phe
ENST00000675272.1:n.1650G>C
ENST00000675284.1:c.744G>C	ENSP00000502758.1:p.Leu248Phe
ENST00000675311.1:c.*78+3124G>C	ENSP00000501961.1:n.*78+3124G>C
ENST00000675426.1:c.*78+3124G>C	ENSP00000501819.1:n.*78+3124G>C
ENST00000675523.1:c.513G>C	ENSP00000502384.1:p.Leu171Phe
ENST00000675552.1:c.646+3124G>C	ENSP00000502197.1:n.646+3124G>C
ENST00000675681.1:c.744G>C	ENSP00000502705.1:p.Leu248Phe
ENST00000675714.1:c.744G>C	ENSP00000502561.1:p.Leu248Phe
ENST00000675726.1:c.744G>C	ENSP00000502452.1:p.Leu248Phe
ENST00000675772.1:c.744G>C	ENSP00000501678.1:p.Leu248Phe
ENST00000675831.1:c.646+3124G>C	ENSP00000502382.1:n.646+3124G>C
ENST00000675844.1:c.513G>C	ENSP00000502353.1:p.Leu171Phe
ENST00000675847.1:n.868G>C
ENST00000675887.1:c.*347G>C	ENSP00000502123.1:n.*347G>C
ENST00000675973.1:c.647-3022G>C	ENSP00000502407.1:n.647-3022G>C
ENST00000675991.1:c.646+3124G>C	ENSP00000502162.1:n.646+3124G>C
ENST00000675994.1:c.646+3124G>C	ENSP00000502419.1:n.646+3124G>C
ENST00000676021.1:c.744G>C	ENSP00000502746.1:p.Leu248Phe
ENST00000676037.1:c.744G>C	ENSP00000502181.1:p.Leu248Phe
ENST00000676136.1:n.884G>C
ENST00000676435.1:c.744G>C	ENSP00000502614.1:p.Leu248Phe
ENST00000676442.1:c.647-3022G>C	ENSP00000502595.1:n.647-3022G>C
ENST00000230124.7:c.744G>C	ENSP00000230124.3:p.Leu248Phe
ENST00000368941.1:c.415+3124G>C	ENSP00000357937.1:n.415+3124G>C
ENST00000454215.5:c.681G>C	ENSP00000412156.1:p.Leu227Phe
NM_014845.5:c.744G>C , LRG_241t1:c.744G>C	NP_055660.1:p.Leu248Phe
XM_011536281.1:c.681G>C	XP_011534583.1:p.Leu227Phe
XM_011536281.3:c.681G>C	XP_011534583.1:p.Leu227Phe
XM_017011591.2:c.744G>C	XP_016867080.1:p.Leu248Phe
XM_017011592.1:c.195G>C	XP_016867081.1:p.Leu65Phe
XM_017011593.2:c.-55+3124G>C	XP_016867082.1:n.-55+3124G>C
NM_014845.6:c.744G>C MANE Select	NP_055660.1:p.Leu248Phe