Canonical Allele Identifier: CA388711038

Gene: FGF14

Linked Data

• gnomAD v4: 13-101726641-G-T
• MyVariant Identifiers: chr13:g.102378991G>T (hg19) ; chr13:g.101726641G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726641G>T , CM000675.2:g.101726641G>T	GRCh38
NC_000013.10:g.102378991G>T , CM000675.1:g.102378991G>T	GRCh37
NC_000013.9:g.101176992G>T	NCBI36
NG_008317.1:g.680134C>A
NG_008317.2:g.680134C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.593C>A	ENSP00000365301.3:p.Ala198Glu
ENST00000418923.3:c.476C>A	ENSP00000516414.1:p.Ala159Glu
ENST00000706491.1:c.*182C>A	ENSP00000516413.1:n.*182C>A
ENST00000706492.1:c.*397C>A	ENSP00000516415.1:n.*397C>A
ENST00000706493.1:c.*492C>A	ENSP00000516416.1:n.*492C>A
ENST00000706494.1:c.326C>A	ENSP00000516417.1:p.Ala109Glu
ENST00000376143.5:c.578C>A MANE Select	ENSP00000365313.4:p.Ala193Glu
ENST00000376131.8:c.593C>A	ENSP00000365301.3:p.Ala198Glu
ENST00000376143.4:c.578C>A	ENSP00000365313.4:p.Ala193Glu
NM_004115.3:c.578C>A	NP_004106.1:p.Ala193Glu
NM_175929.2:c.593C>A	NP_787125.1:p.Ala198Glu
XM_011521053.1:c.398C>A	XP_011519355.1:p.Ala133Glu
NM_001321931.1:c.326C>A	NP_001308860.1:p.Ala109Glu
NM_001321932.1:c.389C>A	NP_001308861.1:p.Ala130Glu
NM_001321933.1:c.398C>A	NP_001308862.1:p.Ala133Glu
NM_001321934.1:c.326C>A	NP_001308863.1:p.Ala109Glu
NM_001321935.1:c.326C>A	NP_001308864.1:p.Ala109Glu
NM_001321936.1:c.389C>A	NP_001308865.1:p.Ala130Glu
NM_001321938.1:c.398C>A	NP_001308867.1:p.Ala133Glu
NM_001321939.1:c.482C>A	NP_001308868.1:p.Ala161Glu
NM_001321940.1:c.398C>A	NP_001308869.1:p.Ala133Glu
NM_001321941.1:c.392C>A	NP_001308870.1:p.Ala131Glu
NM_001321942.1:c.326C>A	NP_001308871.1:p.Ala109Glu
NM_001321943.1:c.326C>A	NP_001308872.1:p.Ala109Glu
NM_001321944.1:c.389C>A	NP_001308873.1:p.Ala130Glu
NM_001321945.1:c.476C>A	NP_001308874.1:p.Ala159Glu
NM_001321946.1:c.326C>A	NP_001308875.1:p.Ala109Glu
NM_001321947.1:c.437C>A	NP_001308876.1:p.Ala146Glu
NM_001321948.1:c.476C>A	NP_001308877.1:p.Ala159Glu
NM_001321949.1:c.326C>A	NP_001308878.1:p.Ala109Glu
NM_001321938.2:c.398C>A	NP_001308867.1:p.Ala133Glu
NM_001321945.2:c.476C>A	NP_001308874.1:p.Ala159Glu
NM_001321946.2:c.326C>A	NP_001308875.1:p.Ala109Glu
NM_001321947.2:c.437C>A	NP_001308876.1:p.Ala146Glu
NM_001321948.2:c.476C>A	NP_001308877.1:p.Ala159Glu
NM_001321939.2:c.482C>A	NP_001308868.1:p.Ala161Glu
NM_001321941.2:c.392C>A	NP_001308870.1:p.Ala131Glu
NM_001379342.1:c.476C>A	NP_001366271.1:p.Ala159Glu
NM_004115.4:c.578C>A MANE Select	NP_004106.1:p.Ala193Glu
NM_175929.3:c.593C>A	NP_787125.1:p.Ala198Glu