Canonical Allele Identifier: CA388711370
Gene: FGF14 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101726782T>A , CM000675.2:g.101726782T>A GRCh38
NC_000013.10:g.102379132T>A , CM000675.1:g.102379132T>A GRCh37
NC_000013.9:g.101177133T>A NCBI36
NG_008317.1:g.679993A>T
NG_008317.2:g.679993A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376131.9:c.452A>T ENSP00000365301.3:p.Lys151Ile
ENST00000418923.3:c.335A>T ENSP00000516414.1:p.Lys112Ile
ENST00000706491.1:c.*41A>T ENSP00000516413.1:n.*41A>T
ENST00000706492.1:c.*256A>T ENSP00000516415.1:n.*256A>T
ENST00000706493.1:c.*351A>T ENSP00000516416.1:n.*351A>T
ENST00000706494.1:c.185A>T ENSP00000516417.1:p.Lys62Ile
ENST00000376143.5:c.437A>T MANE Select ENSP00000365313.4:p.Lys146Ile
ENST00000376131.8:c.452A>T ENSP00000365301.3:p.Lys151Ile
ENST00000376143.4:c.437A>T ENSP00000365313.4:p.Lys146Ile
NM_004115.3:c.437A>T NP_004106.1:p.Lys146Ile
NM_175929.2:c.452A>T NP_787125.1:p.Lys151Ile
XM_011521053.1:c.257A>T XP_011519355.1:p.Lys86Ile
NM_001321931.1:c.185A>T NP_001308860.1:p.Lys62Ile
NM_001321932.1:c.248A>T NP_001308861.1:p.Lys83Ile
NM_001321933.1:c.257A>T NP_001308862.1:p.Lys86Ile
NM_001321934.1:c.185A>T NP_001308863.1:p.Lys62Ile
NM_001321935.1:c.185A>T NP_001308864.1:p.Lys62Ile
NM_001321936.1:c.248A>T NP_001308865.1:p.Lys83Ile
NM_001321938.1:c.257A>T NP_001308867.1:p.Lys86Ile
NM_001321939.1:c.341A>T NP_001308868.1:p.Lys114Ile
NM_001321940.1:c.257A>T NP_001308869.1:p.Lys86Ile
NM_001321941.1:c.251A>T NP_001308870.1:p.Lys84Ile
NM_001321942.1:c.185A>T NP_001308871.1:p.Lys62Ile
NM_001321943.1:c.185A>T NP_001308872.1:p.Lys62Ile
NM_001321944.1:c.248A>T NP_001308873.1:p.Lys83Ile
NM_001321945.1:c.335A>T NP_001308874.1:p.Lys112Ile
NM_001321946.1:c.185A>T NP_001308875.1:p.Lys62Ile
NM_001321947.1:c.296A>T NP_001308876.1:p.Lys99Ile
NM_001321948.1:c.335A>T NP_001308877.1:p.Lys112Ile
NM_001321949.1:c.185A>T NP_001308878.1:p.Lys62Ile
NM_001321938.2:c.257A>T NP_001308867.1:p.Lys86Ile
NM_001321945.2:c.335A>T NP_001308874.1:p.Lys112Ile
NM_001321946.2:c.185A>T NP_001308875.1:p.Lys62Ile
NM_001321947.2:c.296A>T NP_001308876.1:p.Lys99Ile
NM_001321948.2:c.335A>T NP_001308877.1:p.Lys112Ile
NM_001321939.2:c.341A>T NP_001308868.1:p.Lys114Ile
NM_001321941.2:c.251A>T NP_001308870.1:p.Lys84Ile
NM_001379342.1:c.335A>T NP_001366271.1:p.Lys112Ile
NM_004115.4:c.437A>T MANE Select NP_004106.1:p.Lys146Ile
NM_175929.3:c.452A>T NP_787125.1:p.Lys151Ile