Canonical Allele Identifier: CA388711151

Gene: FGF14

Linked Data

• ClinVar Variation Id: 489406
• ClinVar RCV Id: RCV000580889 ; RCV002472357
• dbSNP Id: rs1555370787
• MyVariant Identifiers: chr13:g.102379040T>A (hg19) ; chr13:g.101726690T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726690T>A , CM000675.2:g.101726690T>A	GRCh38
NC_000013.10:g.102379040T>A , CM000675.1:g.102379040T>A	GRCh37
NC_000013.9:g.101177041T>A	NCBI36
NG_008317.1:g.680085A>T
NG_008317.2:g.680085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.544A>T	ENSP00000365301.3:p.Lys182Ter
ENST00000418923.3:c.427A>T	ENSP00000516414.1:p.Lys143Ter
ENST00000706491.1:c.*133A>T	ENSP00000516413.1:n.*133A>T
ENST00000706492.1:c.*348A>T	ENSP00000516415.1:n.*348A>T
ENST00000706493.1:c.*443A>T	ENSP00000516416.1:n.*443A>T
ENST00000706494.1:c.277A>T	ENSP00000516417.1:p.Lys93Ter
ENST00000376143.5:c.529A>T MANE Select	ENSP00000365313.4:p.Lys177Ter
ENST00000376131.8:c.544A>T	ENSP00000365301.3:p.Lys182Ter
ENST00000376143.4:c.529A>T	ENSP00000365313.4:p.Lys177Ter
NM_004115.3:c.529A>T	NP_004106.1:p.Lys177Ter
NM_175929.2:c.544A>T	NP_787125.1:p.Lys182Ter
XM_011521053.1:c.349A>T	XP_011519355.1:p.Lys117Ter
NM_001321931.1:c.277A>T	NP_001308860.1:p.Lys93Ter
NM_001321932.1:c.340A>T	NP_001308861.1:p.Lys114Ter
NM_001321933.1:c.349A>T	NP_001308862.1:p.Lys117Ter
NM_001321934.1:c.277A>T	NP_001308863.1:p.Lys93Ter
NM_001321935.1:c.277A>T	NP_001308864.1:p.Lys93Ter
NM_001321936.1:c.340A>T	NP_001308865.1:p.Lys114Ter
NM_001321938.1:c.349A>T	NP_001308867.1:p.Lys117Ter
NM_001321939.1:c.433A>T	NP_001308868.1:p.Lys145Ter
NM_001321940.1:c.349A>T	NP_001308869.1:p.Lys117Ter
NM_001321941.1:c.343A>T	NP_001308870.1:p.Lys115Ter
NM_001321942.1:c.277A>T	NP_001308871.1:p.Lys93Ter
NM_001321943.1:c.277A>T	NP_001308872.1:p.Lys93Ter
NM_001321944.1:c.340A>T	NP_001308873.1:p.Lys114Ter
NM_001321945.1:c.427A>T	NP_001308874.1:p.Lys143Ter
NM_001321946.1:c.277A>T	NP_001308875.1:p.Lys93Ter
NM_001321947.1:c.388A>T	NP_001308876.1:p.Lys130Ter
NM_001321948.1:c.427A>T	NP_001308877.1:p.Lys143Ter
NM_001321949.1:c.277A>T	NP_001308878.1:p.Lys93Ter
NM_001321938.2:c.349A>T	NP_001308867.1:p.Lys117Ter
NM_001321945.2:c.427A>T	NP_001308874.1:p.Lys143Ter
NM_001321946.2:c.277A>T	NP_001308875.1:p.Lys93Ter
NM_001321947.2:c.388A>T	NP_001308876.1:p.Lys130Ter
NM_001321948.2:c.427A>T	NP_001308877.1:p.Lys143Ter
NM_001321939.2:c.433A>T	NP_001308868.1:p.Lys145Ter
NM_001321941.2:c.343A>T	NP_001308870.1:p.Lys115Ter
NM_001379342.1:c.427A>T	NP_001366271.1:p.Lys143Ter
NM_004115.4:c.529A>T MANE Select	NP_004106.1:p.Lys177Ter
NM_175929.3:c.544A>T	NP_787125.1:p.Lys182Ter