Canonical Allele Identifier: CA388711123
Gene: FGF14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101726678C>A , CM000675.2:g.101726678C>A GRCh38
NC_000013.10:g.102379028C>A , CM000675.1:g.102379028C>A GRCh37
NC_000013.9:g.101177029C>A NCBI36
NG_008317.1:g.680097G>T
NG_008317.2:g.680097G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376131.9:c.556G>T ENSP00000365301.3:p.Ala186Ser
ENST00000418923.3:c.439G>T ENSP00000516414.1:p.Ala147Ser
ENST00000706491.1:c.*145G>T ENSP00000516413.1:n.*145G>T
ENST00000706492.1:c.*360G>T ENSP00000516415.1:n.*360G>T
ENST00000706493.1:c.*455G>T ENSP00000516416.1:n.*455G>T
ENST00000706494.1:c.289G>T ENSP00000516417.1:p.Ala97Ser
ENST00000376143.5:c.541G>T MANE Select ENSP00000365313.4:p.Ala181Ser
ENST00000376131.8:c.556G>T ENSP00000365301.3:p.Ala186Ser
ENST00000376143.4:c.541G>T ENSP00000365313.4:p.Ala181Ser
NM_004115.3:c.541G>T NP_004106.1:p.Ala181Ser
NM_175929.2:c.556G>T NP_787125.1:p.Ala186Ser
XM_011521053.1:c.361G>T XP_011519355.1:p.Ala121Ser
NM_001321931.1:c.289G>T NP_001308860.1:p.Ala97Ser
NM_001321932.1:c.352G>T NP_001308861.1:p.Ala118Ser
NM_001321933.1:c.361G>T NP_001308862.1:p.Ala121Ser
NM_001321934.1:c.289G>T NP_001308863.1:p.Ala97Ser
NM_001321935.1:c.289G>T NP_001308864.1:p.Ala97Ser
NM_001321936.1:c.352G>T NP_001308865.1:p.Ala118Ser
NM_001321938.1:c.361G>T NP_001308867.1:p.Ala121Ser
NM_001321939.1:c.445G>T NP_001308868.1:p.Ala149Ser
NM_001321940.1:c.361G>T NP_001308869.1:p.Ala121Ser
NM_001321941.1:c.355G>T NP_001308870.1:p.Ala119Ser
NM_001321942.1:c.289G>T NP_001308871.1:p.Ala97Ser
NM_001321943.1:c.289G>T NP_001308872.1:p.Ala97Ser
NM_001321944.1:c.352G>T NP_001308873.1:p.Ala118Ser
NM_001321945.1:c.439G>T NP_001308874.1:p.Ala147Ser
NM_001321946.1:c.289G>T NP_001308875.1:p.Ala97Ser
NM_001321947.1:c.400G>T NP_001308876.1:p.Ala134Ser
NM_001321948.1:c.439G>T NP_001308877.1:p.Ala147Ser
NM_001321949.1:c.289G>T NP_001308878.1:p.Ala97Ser
NM_001321938.2:c.361G>T NP_001308867.1:p.Ala121Ser
NM_001321945.2:c.439G>T NP_001308874.1:p.Ala147Ser
NM_001321946.2:c.289G>T NP_001308875.1:p.Ala97Ser
NM_001321947.2:c.400G>T NP_001308876.1:p.Ala134Ser
NM_001321948.2:c.439G>T NP_001308877.1:p.Ala147Ser
NM_001321939.2:c.445G>T NP_001308868.1:p.Ala149Ser
NM_001321941.2:c.355G>T NP_001308870.1:p.Ala119Ser
NM_001379342.1:c.439G>T NP_001366271.1:p.Ala147Ser
NM_004115.4:c.541G>T MANE Select NP_004106.1:p.Ala181Ser
NM_175929.3:c.556G>T NP_787125.1:p.Ala186Ser