Canonical Allele Identifier: CA388711194

Gene: FGF14

Linked Data

• ClinVar Variation Id: 3061913
• ClinVar RCV Id: RCV003984960
• MyVariant Identifiers: chr13:g.102379057C>T (hg19) ; chr13:g.101726707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726707C>T , CM000675.2:g.101726707C>T	GRCh38
NC_000013.10:g.102379057C>T , CM000675.1:g.102379057C>T	GRCh37
NC_000013.9:g.101177058C>T	NCBI36
NG_008317.1:g.680068G>A
NG_008317.2:g.680068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.527G>A	ENSP00000365301.3:p.Trp176Ter
ENST00000418923.3:c.410G>A	ENSP00000516414.1:p.Trp137Ter
ENST00000706491.1:c.*116G>A	ENSP00000516413.1:n.*116G>A
ENST00000706492.1:c.*331G>A	ENSP00000516415.1:n.*331G>A
ENST00000706493.1:c.*426G>A	ENSP00000516416.1:n.*426G>A
ENST00000706494.1:c.260G>A	ENSP00000516417.1:p.Trp87Ter
ENST00000376143.5:c.512G>A MANE Select	ENSP00000365313.4:p.Trp171Ter
ENST00000376131.8:c.527G>A	ENSP00000365301.3:p.Trp176Ter
ENST00000376143.4:c.512G>A	ENSP00000365313.4:p.Trp171Ter
NM_004115.3:c.512G>A	NP_004106.1:p.Trp171Ter
NM_175929.2:c.527G>A	NP_787125.1:p.Trp176Ter
XM_011521053.1:c.332G>A	XP_011519355.1:p.Trp111Ter
NM_001321931.1:c.260G>A	NP_001308860.1:p.Trp87Ter
NM_001321932.1:c.323G>A	NP_001308861.1:p.Trp108Ter
NM_001321933.1:c.332G>A	NP_001308862.1:p.Trp111Ter
NM_001321934.1:c.260G>A	NP_001308863.1:p.Trp87Ter
NM_001321935.1:c.260G>A	NP_001308864.1:p.Trp87Ter
NM_001321936.1:c.323G>A	NP_001308865.1:p.Trp108Ter
NM_001321938.1:c.332G>A	NP_001308867.1:p.Trp111Ter
NM_001321939.1:c.416G>A	NP_001308868.1:p.Trp139Ter
NM_001321940.1:c.332G>A	NP_001308869.1:p.Trp111Ter
NM_001321941.1:c.326G>A	NP_001308870.1:p.Trp109Ter
NM_001321942.1:c.260G>A	NP_001308871.1:p.Trp87Ter
NM_001321943.1:c.260G>A	NP_001308872.1:p.Trp87Ter
NM_001321944.1:c.323G>A	NP_001308873.1:p.Trp108Ter
NM_001321945.1:c.410G>A	NP_001308874.1:p.Trp137Ter
NM_001321946.1:c.260G>A	NP_001308875.1:p.Trp87Ter
NM_001321947.1:c.371G>A	NP_001308876.1:p.Trp124Ter
NM_001321948.1:c.410G>A	NP_001308877.1:p.Trp137Ter
NM_001321949.1:c.260G>A	NP_001308878.1:p.Trp87Ter
NM_001321938.2:c.332G>A	NP_001308867.1:p.Trp111Ter
NM_001321945.2:c.410G>A	NP_001308874.1:p.Trp137Ter
NM_001321946.2:c.260G>A	NP_001308875.1:p.Trp87Ter
NM_001321947.2:c.371G>A	NP_001308876.1:p.Trp124Ter
NM_001321948.2:c.410G>A	NP_001308877.1:p.Trp137Ter
NM_001321939.2:c.416G>A	NP_001308868.1:p.Trp139Ter
NM_001321941.2:c.326G>A	NP_001308870.1:p.Trp109Ter
NM_001379342.1:c.410G>A	NP_001366271.1:p.Trp137Ter
NM_004115.4:c.512G>A MANE Select	NP_004106.1:p.Trp171Ter
NM_175929.3:c.527G>A	NP_787125.1:p.Trp176Ter