Canonical Allele Identifier: CA388711228

Gene: FGF14

Linked Data

• MyVariant Identifiers: chr13:g.102379073C>G (hg19) ; chr13:g.101726723C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726723C>G , CM000675.2:g.101726723C>G	GRCh38
NC_000013.10:g.102379073C>G , CM000675.1:g.102379073C>G	GRCh37
NC_000013.9:g.101177074C>G	NCBI36
NG_008317.1:g.680052G>C
NG_008317.2:g.680052G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.511G>C	ENSP00000365301.3:p.Glu171Gln
ENST00000418923.3:c.394G>C	ENSP00000516414.1:p.Glu132Gln
ENST00000706491.1:c.*100G>C	ENSP00000516413.1:n.*100G>C
ENST00000706492.1:c.*315G>C	ENSP00000516415.1:n.*315G>C
ENST00000706493.1:c.*410G>C	ENSP00000516416.1:n.*410G>C
ENST00000706494.1:c.244G>C	ENSP00000516417.1:p.Glu82Gln
ENST00000376143.5:c.496G>C MANE Select	ENSP00000365313.4:p.Glu166Gln
ENST00000376131.8:c.511G>C	ENSP00000365301.3:p.Glu171Gln
ENST00000376143.4:c.496G>C	ENSP00000365313.4:p.Glu166Gln
NM_004115.3:c.496G>C	NP_004106.1:p.Glu166Gln
NM_175929.2:c.511G>C	NP_787125.1:p.Glu171Gln
XM_011521053.1:c.316G>C	XP_011519355.1:p.Glu106Gln
NM_001321931.1:c.244G>C	NP_001308860.1:p.Glu82Gln
NM_001321932.1:c.307G>C	NP_001308861.1:p.Glu103Gln
NM_001321933.1:c.316G>C	NP_001308862.1:p.Glu106Gln
NM_001321934.1:c.244G>C	NP_001308863.1:p.Glu82Gln
NM_001321935.1:c.244G>C	NP_001308864.1:p.Glu82Gln
NM_001321936.1:c.307G>C	NP_001308865.1:p.Glu103Gln
NM_001321938.1:c.316G>C	NP_001308867.1:p.Glu106Gln
NM_001321939.1:c.400G>C	NP_001308868.1:p.Glu134Gln
NM_001321940.1:c.316G>C	NP_001308869.1:p.Glu106Gln
NM_001321941.1:c.310G>C	NP_001308870.1:p.Glu104Gln
NM_001321942.1:c.244G>C	NP_001308871.1:p.Glu82Gln
NM_001321943.1:c.244G>C	NP_001308872.1:p.Glu82Gln
NM_001321944.1:c.307G>C	NP_001308873.1:p.Glu103Gln
NM_001321945.1:c.394G>C	NP_001308874.1:p.Glu132Gln
NM_001321946.1:c.244G>C	NP_001308875.1:p.Glu82Gln
NM_001321947.1:c.355G>C	NP_001308876.1:p.Glu119Gln
NM_001321948.1:c.394G>C	NP_001308877.1:p.Glu132Gln
NM_001321949.1:c.244G>C	NP_001308878.1:p.Glu82Gln
NM_001321938.2:c.316G>C	NP_001308867.1:p.Glu106Gln
NM_001321945.2:c.394G>C	NP_001308874.1:p.Glu132Gln
NM_001321946.2:c.244G>C	NP_001308875.1:p.Glu82Gln
NM_001321947.2:c.355G>C	NP_001308876.1:p.Glu119Gln
NM_001321948.2:c.394G>C	NP_001308877.1:p.Glu132Gln
NM_001321939.2:c.400G>C	NP_001308868.1:p.Glu134Gln
NM_001321941.2:c.310G>C	NP_001308870.1:p.Glu104Gln
NM_001379342.1:c.394G>C	NP_001366271.1:p.Glu132Gln
NM_004115.4:c.496G>C MANE Select	NP_004106.1:p.Glu166Gln
NM_175929.3:c.511G>C	NP_787125.1:p.Glu171Gln