Canonical Allele Identifier: CA10642706

Gene: FGF14

Linked Data

• ClinVar Variation Id: 310888
• ClinVar RCV Id: RCV000357338 ; RCV003401310
• dbSNP Id: rs557390242
• gnomAD v2: 13-102374767-A-G
• gnomAD v3: 13-101722417-A-G
• gnomAD v4: 13-101722417-A-G
• MyVariant Identifiers: chr13:g.102374767A>G (hg19) ; chr13:g.101722417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101722417A>G , CM000675.2:g.101722417A>G	GRCh38
NC_000013.10:g.102374767A>G , CM000675.1:g.102374767A>G	GRCh37
NC_000013.9:g.101172768A>G	NCBI36
NG_008317.1:g.684358T>C
NG_008317.2:g.684358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.*414T>C	ENSP00000365301.3:n.*414T>C
ENST00000418923.3:c.*414T>C	ENSP00000516414.1:n.*414T>C
ENST00000706491.1:c.*762T>C	ENSP00000516413.1:n.*762T>C
ENST00000706492.1:c.*977T>C	ENSP00000516415.1:n.*977T>C
ENST00000706493.1:c.*1072T>C	ENSP00000516416.1:n.*1072T>C
ENST00000706494.1:c.*414T>C	ENSP00000516417.1:n.*414T>C
ENST00000376143.5:c.*414T>C MANE Select	ENSP00000365313.4:n.*414T>C
ENST00000376131.8:c.*414T>C	ENSP00000365301.3:n.*414T>C
NM_004115.3:c.1158T>C	NP_004106.1:n.1158T>C
NM_175929.2:c.*414T>C	NP_787125.1:n.*414T>C
XM_011521053.1:c.*414T>C	XP_011519355.1:n.*414T>C
NM_001321931.1:c.*414T>C	NP_001308860.1:n.*414T>C
NM_001321932.1:c.*414T>C	NP_001308861.1:n.*414T>C
NM_001321933.1:c.*414T>C	NP_001308862.1:n.*414T>C
NM_001321934.1:c.*414T>C	NP_001308863.1:n.*414T>C
NM_001321935.1:c.*414T>C	NP_001308864.1:n.*414T>C
NM_001321936.1:c.*414T>C	NP_001308865.1:n.*414T>C
NM_001321938.1:c.*414T>C	NP_001308867.1:n.*414T>C
NM_001321939.1:c.*414T>C	NP_001308868.1:n.*414T>C
NM_001321940.1:c.*414T>C	NP_001308869.1:n.*414T>C
NM_001321941.1:c.*414T>C	NP_001308870.1:n.*414T>C
NM_001321942.1:c.*414T>C	NP_001308871.1:n.*414T>C
NM_001321943.1:c.*414T>C	NP_001308872.1:n.*414T>C
NM_001321944.1:c.*414T>C	NP_001308873.1:n.*414T>C
NM_001321945.1:c.*414T>C	NP_001308874.1:n.*414T>C
NM_001321946.1:c.*414T>C	NP_001308875.1:n.*414T>C
NM_001321947.1:c.*414T>C	NP_001308876.1:n.*414T>C
NM_001321948.1:c.*414T>C	NP_001308877.1:n.*414T>C
NM_001321949.1:c.*414T>C	NP_001308878.1:n.*414T>C
NM_001321938.2:c.*414T>C	NP_001308867.1:n.*414T>C
NM_001321945.2:c.*414T>C	NP_001308874.1:n.*414T>C
NM_001321946.2:c.*414T>C	NP_001308875.1:n.*414T>C
NM_001321947.2:c.*414T>C	NP_001308876.1:n.*414T>C
NM_001321948.2:c.*414T>C	NP_001308877.1:n.*414T>C
NM_001321939.2:c.*414T>C	NP_001308868.1:n.*414T>C
NM_001321941.2:c.*414T>C	NP_001308870.1:n.*414T>C
NM_001379342.1:c.*414T>C	NP_001366271.1:n.*414T>C
NM_004115.4:c.*414T>C MANE Select	NP_004106.1:n.*414T>C
NM_175929.3:c.*414T>C	NP_787125.1:n.*414T>C