Canonical Allele Identifier: CA388711366

Gene: FGF14

Linked Data

• ClinVar Variation Id: 1694709
• ClinVar RCV Id: RCV002262429 ; RCV002291320
• dbSNP Id: rs865878627
• MyVariant Identifiers: chr13:g.102379130C>A (hg19) ; chr13:g.101726780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726780C>A , CM000675.2:g.101726780C>A	GRCh38
NC_000013.10:g.102379130C>A , CM000675.1:g.102379130C>A	GRCh37
NC_000013.9:g.101177131C>A	NCBI36
NG_008317.1:g.679995G>T
NG_008317.2:g.679995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.454G>T	ENSP00000365301.3:p.Glu152Ter
ENST00000418923.3:c.337G>T	ENSP00000516414.1:p.Glu113Ter
ENST00000706491.1:c.*43G>T	ENSP00000516413.1:n.*43G>T
ENST00000706492.1:c.*258G>T	ENSP00000516415.1:n.*258G>T
ENST00000706493.1:c.*353G>T	ENSP00000516416.1:n.*353G>T
ENST00000706494.1:c.187G>T	ENSP00000516417.1:p.Glu63Ter
ENST00000376143.5:c.439G>T MANE Select	ENSP00000365313.4:p.Glu147Ter
ENST00000376131.8:c.454G>T	ENSP00000365301.3:p.Glu152Ter
ENST00000376143.4:c.439G>T	ENSP00000365313.4:p.Glu147Ter
NM_004115.3:c.439G>T	NP_004106.1:p.Glu147Ter
NM_175929.2:c.454G>T	NP_787125.1:p.Glu152Ter
XM_011521053.1:c.259G>T	XP_011519355.1:p.Glu87Ter
NM_001321931.1:c.187G>T	NP_001308860.1:p.Glu63Ter
NM_001321932.1:c.250G>T	NP_001308861.1:p.Glu84Ter
NM_001321933.1:c.259G>T	NP_001308862.1:p.Glu87Ter
NM_001321934.1:c.187G>T	NP_001308863.1:p.Glu63Ter
NM_001321935.1:c.187G>T	NP_001308864.1:p.Glu63Ter
NM_001321936.1:c.250G>T	NP_001308865.1:p.Glu84Ter
NM_001321938.1:c.259G>T	NP_001308867.1:p.Glu87Ter
NM_001321939.1:c.343G>T	NP_001308868.1:p.Glu115Ter
NM_001321940.1:c.259G>T	NP_001308869.1:p.Glu87Ter
NM_001321941.1:c.253G>T	NP_001308870.1:p.Glu85Ter
NM_001321942.1:c.187G>T	NP_001308871.1:p.Glu63Ter
NM_001321943.1:c.187G>T	NP_001308872.1:p.Glu63Ter
NM_001321944.1:c.250G>T	NP_001308873.1:p.Glu84Ter
NM_001321945.1:c.337G>T	NP_001308874.1:p.Glu113Ter
NM_001321946.1:c.187G>T	NP_001308875.1:p.Glu63Ter
NM_001321947.1:c.298G>T	NP_001308876.1:p.Glu100Ter
NM_001321948.1:c.337G>T	NP_001308877.1:p.Glu113Ter
NM_001321949.1:c.187G>T	NP_001308878.1:p.Glu63Ter
NM_001321938.2:c.259G>T	NP_001308867.1:p.Glu87Ter
NM_001321945.2:c.337G>T	NP_001308874.1:p.Glu113Ter
NM_001321946.2:c.187G>T	NP_001308875.1:p.Glu63Ter
NM_001321947.2:c.298G>T	NP_001308876.1:p.Glu100Ter
NM_001321948.2:c.337G>T	NP_001308877.1:p.Glu113Ter
NM_001321939.2:c.343G>T	NP_001308868.1:p.Glu115Ter
NM_001321941.2:c.253G>T	NP_001308870.1:p.Glu85Ter
NM_001379342.1:c.337G>T	NP_001366271.1:p.Glu113Ter
NM_004115.4:c.439G>T MANE Select	NP_004106.1:p.Glu147Ter
NM_175929.3:c.454G>T	NP_787125.1:p.Glu152Ter