Canonical Allele Identifier: CA388711241
Gene: FGF14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101726728T>C , CM000675.2:g.101726728T>C GRCh38
NC_000013.10:g.102379078T>C , CM000675.1:g.102379078T>C GRCh37
NC_000013.9:g.101177079T>C NCBI36
NG_008317.1:g.680047A>G
NG_008317.2:g.680047A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376131.9:c.506A>G ENSP00000365301.3:p.Gln169Arg
ENST00000418923.3:c.389A>G ENSP00000516414.1:p.Gln130Arg
ENST00000706491.1:c.*95A>G ENSP00000516413.1:n.*95A>G
ENST00000706492.1:c.*310A>G ENSP00000516415.1:n.*310A>G
ENST00000706493.1:c.*405A>G ENSP00000516416.1:n.*405A>G
ENST00000706494.1:c.239A>G ENSP00000516417.1:p.Gln80Arg
ENST00000376143.5:c.491A>G MANE Select ENSP00000365313.4:p.Gln164Arg
ENST00000376131.8:c.506A>G ENSP00000365301.3:p.Gln169Arg
ENST00000376143.4:c.491A>G ENSP00000365313.4:p.Gln164Arg
NM_004115.3:c.491A>G NP_004106.1:p.Gln164Arg
NM_175929.2:c.506A>G NP_787125.1:p.Gln169Arg
XM_011521053.1:c.311A>G XP_011519355.1:p.Gln104Arg
NM_001321931.1:c.239A>G NP_001308860.1:p.Gln80Arg
NM_001321932.1:c.302A>G NP_001308861.1:p.Gln101Arg
NM_001321933.1:c.311A>G NP_001308862.1:p.Gln104Arg
NM_001321934.1:c.239A>G NP_001308863.1:p.Gln80Arg
NM_001321935.1:c.239A>G NP_001308864.1:p.Gln80Arg
NM_001321936.1:c.302A>G NP_001308865.1:p.Gln101Arg
NM_001321938.1:c.311A>G NP_001308867.1:p.Gln104Arg
NM_001321939.1:c.395A>G NP_001308868.1:p.Gln132Arg
NM_001321940.1:c.311A>G NP_001308869.1:p.Gln104Arg
NM_001321941.1:c.305A>G NP_001308870.1:p.Gln102Arg
NM_001321942.1:c.239A>G NP_001308871.1:p.Gln80Arg
NM_001321943.1:c.239A>G NP_001308872.1:p.Gln80Arg
NM_001321944.1:c.302A>G NP_001308873.1:p.Gln101Arg
NM_001321945.1:c.389A>G NP_001308874.1:p.Gln130Arg
NM_001321946.1:c.239A>G NP_001308875.1:p.Gln80Arg
NM_001321947.1:c.350A>G NP_001308876.1:p.Gln117Arg
NM_001321948.1:c.389A>G NP_001308877.1:p.Gln130Arg
NM_001321949.1:c.239A>G NP_001308878.1:p.Gln80Arg
NM_001321938.2:c.311A>G NP_001308867.1:p.Gln104Arg
NM_001321945.2:c.389A>G NP_001308874.1:p.Gln130Arg
NM_001321946.2:c.239A>G NP_001308875.1:p.Gln80Arg
NM_001321947.2:c.350A>G NP_001308876.1:p.Gln117Arg
NM_001321948.2:c.389A>G NP_001308877.1:p.Gln130Arg
NM_001321939.2:c.395A>G NP_001308868.1:p.Gln132Arg
NM_001321941.2:c.305A>G NP_001308870.1:p.Gln102Arg
NM_001379342.1:c.389A>G NP_001366271.1:p.Gln130Arg
NM_004115.4:c.491A>G MANE Select NP_004106.1:p.Gln164Arg
NM_175929.3:c.506A>G NP_787125.1:p.Gln169Arg