Canonical Allele Identifier: CA388711263

Gene: FGF14

Linked Data

• ClinVar Variation Id: 2849354
• ClinVar RCV Id: RCV003695683
• COSMIC: COSM3466939 ; COSM3466940
• MyVariant Identifiers: chr13:g.102379087A>C (hg19) ; chr13:g.101726737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726737A>C , CM000675.2:g.101726737A>C	GRCh38
NC_000013.10:g.102379087A>C , CM000675.1:g.102379087A>C	GRCh37
NC_000013.9:g.101177088A>C	NCBI36
NG_008317.1:g.680038T>G
NG_008317.2:g.680038T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.497T>G	ENSP00000365301.3:p.Leu166Trp
ENST00000418923.3:c.380T>G	ENSP00000516414.1:p.Leu127Trp
ENST00000706491.1:c.*86T>G	ENSP00000516413.1:n.*86T>G
ENST00000706492.1:c.*301T>G	ENSP00000516415.1:n.*301T>G
ENST00000706493.1:c.*396T>G	ENSP00000516416.1:n.*396T>G
ENST00000706494.1:c.230T>G	ENSP00000516417.1:p.Leu77Trp
ENST00000376143.5:c.482T>G MANE Select	ENSP00000365313.4:p.Leu161Trp
ENST00000376131.8:c.497T>G	ENSP00000365301.3:p.Leu166Trp
ENST00000376143.4:c.482T>G	ENSP00000365313.4:p.Leu161Trp
NM_004115.3:c.482T>G	NP_004106.1:p.Leu161Trp
NM_175929.2:c.497T>G	NP_787125.1:p.Leu166Trp
XM_011521053.1:c.302T>G	XP_011519355.1:p.Leu101Trp
NM_001321931.1:c.230T>G	NP_001308860.1:p.Leu77Trp
NM_001321932.1:c.293T>G	NP_001308861.1:p.Leu98Trp
NM_001321933.1:c.302T>G	NP_001308862.1:p.Leu101Trp
NM_001321934.1:c.230T>G	NP_001308863.1:p.Leu77Trp
NM_001321935.1:c.230T>G	NP_001308864.1:p.Leu77Trp
NM_001321936.1:c.293T>G	NP_001308865.1:p.Leu98Trp
NM_001321938.1:c.302T>G	NP_001308867.1:p.Leu101Trp
NM_001321939.1:c.386T>G	NP_001308868.1:p.Leu129Trp
NM_001321940.1:c.302T>G	NP_001308869.1:p.Leu101Trp
NM_001321941.1:c.296T>G	NP_001308870.1:p.Leu99Trp
NM_001321942.1:c.230T>G	NP_001308871.1:p.Leu77Trp
NM_001321943.1:c.230T>G	NP_001308872.1:p.Leu77Trp
NM_001321944.1:c.293T>G	NP_001308873.1:p.Leu98Trp
NM_001321945.1:c.380T>G	NP_001308874.1:p.Leu127Trp
NM_001321946.1:c.230T>G	NP_001308875.1:p.Leu77Trp
NM_001321947.1:c.341T>G	NP_001308876.1:p.Leu114Trp
NM_001321948.1:c.380T>G	NP_001308877.1:p.Leu127Trp
NM_001321949.1:c.230T>G	NP_001308878.1:p.Leu77Trp
NM_001321938.2:c.302T>G	NP_001308867.1:p.Leu101Trp
NM_001321945.2:c.380T>G	NP_001308874.1:p.Leu127Trp
NM_001321946.2:c.230T>G	NP_001308875.1:p.Leu77Trp
NM_001321947.2:c.341T>G	NP_001308876.1:p.Leu114Trp
NM_001321948.2:c.380T>G	NP_001308877.1:p.Leu127Trp
NM_001321939.2:c.386T>G	NP_001308868.1:p.Leu129Trp
NM_001321941.2:c.296T>G	NP_001308870.1:p.Leu99Trp
NM_001379342.1:c.380T>G	NP_001366271.1:p.Leu127Trp
NM_004115.4:c.482T>G MANE Select	NP_004106.1:p.Leu161Trp
NM_175929.3:c.497T>G	NP_787125.1:p.Leu166Trp