Canonical Allele Identifier: CA484767540
Gene: FGF14 HGNC NCBI

Linked Data

dbSNP Id: rs2139687693
MyVariant Identifiers: chr13:g.102378959C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.101726609C>T , CM000675.2:g.101726609C>T GRCh38
NC_000013.10:g.102378959C>T , CM000675.1:g.102378959C>T GRCh37
NC_000013.9:g.101176960C>T NCBI36
NG_008317.1:g.680166G>A
NG_008317.2:g.680166G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376131.9:c.622+3G>A ENSP00000365301.3:n.622+3G>A
ENST00000418923.3:c.505+3G>A ENSP00000516414.1:n.505+3G>A
ENST00000706491.1:c.*211+3G>A ENSP00000516413.1:n.*211+3G>A
ENST00000706492.1:c.*426+3G>A ENSP00000516415.1:n.*426+3G>A
ENST00000706493.1:c.*521+3G>A ENSP00000516416.1:n.*521+3G>A
ENST00000706494.1:c.355+3G>A ENSP00000516417.1:n.355+3G>A
ENST00000376143.5:c.607+3G>A MANE Select ENSP00000365313.4:n.607+3G>A
ENST00000376131.8:c.622+3G>A ENSP00000365301.3:n.622+3G>A
ENST00000376143.4:c.607+3G>A ENSP00000365313.4:n.607+3G>A
NM_004115.3:c.607+3G>A NP_004106.1:n.607+3G>A
NM_175929.2:c.622+3G>A NP_787125.1:n.622+3G>A
XM_011521053.1:c.427+3G>A XP_011519355.1:n.427+3G>A
NM_001321931.1:c.355+3G>A NP_001308860.1:n.355+3G>A
NM_001321932.1:c.418+3G>A NP_001308861.1:n.418+3G>A
NM_001321933.1:c.427+3G>A NP_001308862.1:n.427+3G>A
NM_001321934.1:c.355+3G>A NP_001308863.1:n.355+3G>A
NM_001321935.1:c.355+3G>A NP_001308864.1:n.355+3G>A
NM_001321936.1:c.418+3G>A NP_001308865.1:n.418+3G>A
NM_001321938.1:c.427+3G>A NP_001308867.1:n.427+3G>A
NM_001321939.1:c.511+3G>A NP_001308868.1:n.511+3G>A
NM_001321940.1:c.427+3G>A NP_001308869.1:n.427+3G>A
NM_001321941.1:c.421+3G>A NP_001308870.1:n.421+3G>A
NM_001321942.1:c.355+3G>A NP_001308871.1:n.355+3G>A
NM_001321943.1:c.355+3G>A NP_001308872.1:n.355+3G>A
NM_001321944.1:c.418+3G>A NP_001308873.1:n.418+3G>A
NM_001321945.1:c.505+3G>A NP_001308874.1:n.505+3G>A
NM_001321946.1:c.355+3G>A NP_001308875.1:n.355+3G>A
NM_001321947.1:c.466+3G>A NP_001308876.1:n.466+3G>A
NM_001321948.1:c.505+3G>A NP_001308877.1:n.505+3G>A
NM_001321949.1:c.355+3G>A NP_001308878.1:n.355+3G>A
NM_001321938.2:c.427+3G>A NP_001308867.1:n.427+3G>A
NM_001321945.2:c.505+3G>A NP_001308874.1:n.505+3G>A
NM_001321946.2:c.355+3G>A NP_001308875.1:n.355+3G>A
NM_001321947.2:c.466+3G>A NP_001308876.1:n.466+3G>A
NM_001321948.2:c.505+3G>A NP_001308877.1:n.505+3G>A
NM_001321939.2:c.511+3G>A NP_001308868.1:n.511+3G>A
NM_001321941.2:c.421+3G>A NP_001308870.1:n.421+3G>A
NM_001379342.1:c.505+3G>A NP_001366271.1:n.505+3G>A
NM_004115.4:c.607+3G>A MANE Select NP_004106.1:n.607+3G>A
NM_175929.3:c.622+3G>A NP_787125.1:n.622+3G>A