Canonical Allele Identifier: CA388710999

Gene: FGF14

Linked Data

• gnomAD v4: 13-101726623-T-G
• MyVariant Identifiers: chr13:g.102378973T>G (hg19) ; chr13:g.101726623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726623T>G , CM000675.2:g.101726623T>G	GRCh38
NC_000013.10:g.102378973T>G , CM000675.1:g.102378973T>G	GRCh37
NC_000013.9:g.101176974T>G	NCBI36
NG_008317.1:g.680152A>C
NG_008317.2:g.680152A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.611A>C	ENSP00000365301.3:p.Lys204Thr
ENST00000418923.3:c.494A>C	ENSP00000516414.1:p.Lys165Thr
ENST00000706491.1:c.*200A>C	ENSP00000516413.1:n.*200A>C
ENST00000706492.1:c.*415A>C	ENSP00000516415.1:n.*415A>C
ENST00000706493.1:c.*510A>C	ENSP00000516416.1:n.*510A>C
ENST00000706494.1:c.344A>C	ENSP00000516417.1:p.Lys115Thr
ENST00000376143.5:c.596A>C MANE Select	ENSP00000365313.4:p.Lys199Thr
ENST00000376131.8:c.611A>C	ENSP00000365301.3:p.Lys204Thr
ENST00000376143.4:c.596A>C	ENSP00000365313.4:p.Lys199Thr
NM_004115.3:c.596A>C	NP_004106.1:p.Lys199Thr
NM_175929.2:c.611A>C	NP_787125.1:p.Lys204Thr
XM_011521053.1:c.416A>C	XP_011519355.1:p.Lys139Thr
NM_001321931.1:c.344A>C	NP_001308860.1:p.Lys115Thr
NM_001321932.1:c.407A>C	NP_001308861.1:p.Lys136Thr
NM_001321933.1:c.416A>C	NP_001308862.1:p.Lys139Thr
NM_001321934.1:c.344A>C	NP_001308863.1:p.Lys115Thr
NM_001321935.1:c.344A>C	NP_001308864.1:p.Lys115Thr
NM_001321936.1:c.407A>C	NP_001308865.1:p.Lys136Thr
NM_001321938.1:c.416A>C	NP_001308867.1:p.Lys139Thr
NM_001321939.1:c.500A>C	NP_001308868.1:p.Lys167Thr
NM_001321940.1:c.416A>C	NP_001308869.1:p.Lys139Thr
NM_001321941.1:c.410A>C	NP_001308870.1:p.Lys137Thr
NM_001321942.1:c.344A>C	NP_001308871.1:p.Lys115Thr
NM_001321943.1:c.344A>C	NP_001308872.1:p.Lys115Thr
NM_001321944.1:c.407A>C	NP_001308873.1:p.Lys136Thr
NM_001321945.1:c.494A>C	NP_001308874.1:p.Lys165Thr
NM_001321946.1:c.344A>C	NP_001308875.1:p.Lys115Thr
NM_001321947.1:c.455A>C	NP_001308876.1:p.Lys152Thr
NM_001321948.1:c.494A>C	NP_001308877.1:p.Lys165Thr
NM_001321949.1:c.344A>C	NP_001308878.1:p.Lys115Thr
NM_001321938.2:c.416A>C	NP_001308867.1:p.Lys139Thr
NM_001321945.2:c.494A>C	NP_001308874.1:p.Lys165Thr
NM_001321946.2:c.344A>C	NP_001308875.1:p.Lys115Thr
NM_001321947.2:c.455A>C	NP_001308876.1:p.Lys152Thr
NM_001321948.2:c.494A>C	NP_001308877.1:p.Lys165Thr
NM_001321939.2:c.500A>C	NP_001308868.1:p.Lys167Thr
NM_001321941.2:c.410A>C	NP_001308870.1:p.Lys137Thr
NM_001379342.1:c.494A>C	NP_001366271.1:p.Lys165Thr
NM_004115.4:c.596A>C MANE Select	NP_004106.1:p.Lys199Thr
NM_175929.3:c.611A>C	NP_787125.1:p.Lys204Thr