Canonical Allele Identifier: CA388711034
Gene: FGF14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101726639C>G , CM000675.2:g.101726639C>G GRCh38
NC_000013.10:g.102378989C>G , CM000675.1:g.102378989C>G GRCh37
NC_000013.9:g.101176990C>G NCBI36
NG_008317.1:g.680136G>C
NG_008317.2:g.680136G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376131.9:c.595G>C ENSP00000365301.3:p.Ala199Pro
ENST00000418923.3:c.478G>C ENSP00000516414.1:p.Ala160Pro
ENST00000706491.1:c.*184G>C ENSP00000516413.1:n.*184G>C
ENST00000706492.1:c.*399G>C ENSP00000516415.1:n.*399G>C
ENST00000706493.1:c.*494G>C ENSP00000516416.1:n.*494G>C
ENST00000706494.1:c.328G>C ENSP00000516417.1:p.Ala110Pro
ENST00000376143.5:c.580G>C MANE Select ENSP00000365313.4:p.Ala194Pro
ENST00000376131.8:c.595G>C ENSP00000365301.3:p.Ala199Pro
ENST00000376143.4:c.580G>C ENSP00000365313.4:p.Ala194Pro
NM_004115.3:c.580G>C NP_004106.1:p.Ala194Pro
NM_175929.2:c.595G>C NP_787125.1:p.Ala199Pro
XM_011521053.1:c.400G>C XP_011519355.1:p.Ala134Pro
NM_001321931.1:c.328G>C NP_001308860.1:p.Ala110Pro
NM_001321932.1:c.391G>C NP_001308861.1:p.Ala131Pro
NM_001321933.1:c.400G>C NP_001308862.1:p.Ala134Pro
NM_001321934.1:c.328G>C NP_001308863.1:p.Ala110Pro
NM_001321935.1:c.328G>C NP_001308864.1:p.Ala110Pro
NM_001321936.1:c.391G>C NP_001308865.1:p.Ala131Pro
NM_001321938.1:c.400G>C NP_001308867.1:p.Ala134Pro
NM_001321939.1:c.484G>C NP_001308868.1:p.Ala162Pro
NM_001321940.1:c.400G>C NP_001308869.1:p.Ala134Pro
NM_001321941.1:c.394G>C NP_001308870.1:p.Ala132Pro
NM_001321942.1:c.328G>C NP_001308871.1:p.Ala110Pro
NM_001321943.1:c.328G>C NP_001308872.1:p.Ala110Pro
NM_001321944.1:c.391G>C NP_001308873.1:p.Ala131Pro
NM_001321945.1:c.478G>C NP_001308874.1:p.Ala160Pro
NM_001321946.1:c.328G>C NP_001308875.1:p.Ala110Pro
NM_001321947.1:c.439G>C NP_001308876.1:p.Ala147Pro
NM_001321948.1:c.478G>C NP_001308877.1:p.Ala160Pro
NM_001321949.1:c.328G>C NP_001308878.1:p.Ala110Pro
NM_001321938.2:c.400G>C NP_001308867.1:p.Ala134Pro
NM_001321945.2:c.478G>C NP_001308874.1:p.Ala160Pro
NM_001321946.2:c.328G>C NP_001308875.1:p.Ala110Pro
NM_001321947.2:c.439G>C NP_001308876.1:p.Ala147Pro
NM_001321948.2:c.478G>C NP_001308877.1:p.Ala160Pro
NM_001321939.2:c.484G>C NP_001308868.1:p.Ala162Pro
NM_001321941.2:c.394G>C NP_001308870.1:p.Ala132Pro
NM_001379342.1:c.478G>C NP_001366271.1:p.Ala160Pro
NM_004115.4:c.580G>C MANE Select NP_004106.1:p.Ala194Pro
NM_175929.3:c.595G>C NP_787125.1:p.Ala199Pro