Canonical Allele Identifier: CA388711044

Gene: FGF14

Linked Data

• dbSNP Id: rs2139687888
• MyVariant Identifiers: chr13:g.102378994G>T (hg19) ; chr13:g.101726644G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726644G>T , CM000675.2:g.101726644G>T	GRCh38
NC_000013.10:g.102378994G>T , CM000675.1:g.102378994G>T	GRCh37
NC_000013.9:g.101176995G>T	NCBI36
NG_008317.1:g.680131C>A
NG_008317.2:g.680131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.590C>A	ENSP00000365301.3:p.Pro197Gln
ENST00000418923.3:c.473C>A	ENSP00000516414.1:p.Pro158Gln
ENST00000706491.1:c.*179C>A	ENSP00000516413.1:n.*179C>A
ENST00000706492.1:c.*394C>A	ENSP00000516415.1:n.*394C>A
ENST00000706493.1:c.*489C>A	ENSP00000516416.1:n.*489C>A
ENST00000706494.1:c.323C>A	ENSP00000516417.1:p.Pro108Gln
ENST00000376143.5:c.575C>A MANE Select	ENSP00000365313.4:p.Pro192Gln
ENST00000376131.8:c.590C>A	ENSP00000365301.3:p.Pro197Gln
ENST00000376143.4:c.575C>A	ENSP00000365313.4:p.Pro192Gln
NM_004115.3:c.575C>A	NP_004106.1:p.Pro192Gln
NM_175929.2:c.590C>A	NP_787125.1:p.Pro197Gln
XM_011521053.1:c.395C>A	XP_011519355.1:p.Pro132Gln
NM_001321931.1:c.323C>A	NP_001308860.1:p.Pro108Gln
NM_001321932.1:c.386C>A	NP_001308861.1:p.Pro129Gln
NM_001321933.1:c.395C>A	NP_001308862.1:p.Pro132Gln
NM_001321934.1:c.323C>A	NP_001308863.1:p.Pro108Gln
NM_001321935.1:c.323C>A	NP_001308864.1:p.Pro108Gln
NM_001321936.1:c.386C>A	NP_001308865.1:p.Pro129Gln
NM_001321938.1:c.395C>A	NP_001308867.1:p.Pro132Gln
NM_001321939.1:c.479C>A	NP_001308868.1:p.Pro160Gln
NM_001321940.1:c.395C>A	NP_001308869.1:p.Pro132Gln
NM_001321941.1:c.389C>A	NP_001308870.1:p.Pro130Gln
NM_001321942.1:c.323C>A	NP_001308871.1:p.Pro108Gln
NM_001321943.1:c.323C>A	NP_001308872.1:p.Pro108Gln
NM_001321944.1:c.386C>A	NP_001308873.1:p.Pro129Gln
NM_001321945.1:c.473C>A	NP_001308874.1:p.Pro158Gln
NM_001321946.1:c.323C>A	NP_001308875.1:p.Pro108Gln
NM_001321947.1:c.434C>A	NP_001308876.1:p.Pro145Gln
NM_001321948.1:c.473C>A	NP_001308877.1:p.Pro158Gln
NM_001321949.1:c.323C>A	NP_001308878.1:p.Pro108Gln
NM_001321938.2:c.395C>A	NP_001308867.1:p.Pro132Gln
NM_001321945.2:c.473C>A	NP_001308874.1:p.Pro158Gln
NM_001321946.2:c.323C>A	NP_001308875.1:p.Pro108Gln
NM_001321947.2:c.434C>A	NP_001308876.1:p.Pro145Gln
NM_001321948.2:c.473C>A	NP_001308877.1:p.Pro158Gln
NM_001321939.2:c.479C>A	NP_001308868.1:p.Pro160Gln
NM_001321941.2:c.389C>A	NP_001308870.1:p.Pro130Gln
NM_001379342.1:c.473C>A	NP_001366271.1:p.Pro158Gln
NM_004115.4:c.575C>A MANE Select	NP_004106.1:p.Pro192Gln
NM_175929.3:c.590C>A	NP_787125.1:p.Pro197Gln