Canonical Allele Identifier: CA484767602

Gene: FGF14

Linked Data

• gnomAD v4: 13-101726724-C-T
• MyVariant Identifiers: chr13:g.102379074C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.101726724C>T , CM000675.2:g.101726724C>T	GRCh38
NC_000013.10:g.102379074C>T , CM000675.1:g.102379074C>T	GRCh37
NC_000013.9:g.101177075C>T	NCBI36
NG_008317.1:g.680051G>A
NG_008317.2:g.680051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376131.9:c.510G>A	ENSP00000365301.3:p.Gln170=
ENST00000418923.3:c.393G>A	ENSP00000516414.1:p.Gln131=
ENST00000706491.1:c.*99G>A	ENSP00000516413.1:n.*99G>A
ENST00000706492.1:c.*314G>A	ENSP00000516415.1:n.*314G>A
ENST00000706493.1:c.*409G>A	ENSP00000516416.1:n.*409G>A
ENST00000706494.1:c.243G>A	ENSP00000516417.1:p.Gln81=
ENST00000376143.5:c.495G>A MANE Select	ENSP00000365313.4:p.Gln165=
ENST00000376131.8:c.510G>A	ENSP00000365301.3:p.Gln170=
ENST00000376143.4:c.495G>A	ENSP00000365313.4:p.Gln165=
NM_004115.3:c.495G>A	NP_004106.1:p.Gln165=
NM_175929.2:c.510G>A	NP_787125.1:p.Gln170=
XM_011521053.1:c.315G>A	XP_011519355.1:p.Gln105=
NM_001321931.1:c.243G>A	NP_001308860.1:p.Gln81=
NM_001321932.1:c.306G>A	NP_001308861.1:p.Gln102=
NM_001321933.1:c.315G>A	NP_001308862.1:p.Gln105=
NM_001321934.1:c.243G>A	NP_001308863.1:p.Gln81=
NM_001321935.1:c.243G>A	NP_001308864.1:p.Gln81=
NM_001321936.1:c.306G>A	NP_001308865.1:p.Gln102=
NM_001321938.1:c.315G>A	NP_001308867.1:p.Gln105=
NM_001321939.1:c.399G>A	NP_001308868.1:p.Gln133=
NM_001321940.1:c.315G>A	NP_001308869.1:p.Gln105=
NM_001321941.1:c.309G>A	NP_001308870.1:p.Gln103=
NM_001321942.1:c.243G>A	NP_001308871.1:p.Gln81=
NM_001321943.1:c.243G>A	NP_001308872.1:p.Gln81=
NM_001321944.1:c.306G>A	NP_001308873.1:p.Gln102=
NM_001321945.1:c.393G>A	NP_001308874.1:p.Gln131=
NM_001321946.1:c.243G>A	NP_001308875.1:p.Gln81=
NM_001321947.1:c.354G>A	NP_001308876.1:p.Gln118=
NM_001321948.1:c.393G>A	NP_001308877.1:p.Gln131=
NM_001321949.1:c.243G>A	NP_001308878.1:p.Gln81=
NM_001321938.2:c.315G>A	NP_001308867.1:p.Gln105=
NM_001321945.2:c.393G>A	NP_001308874.1:p.Gln131=
NM_001321946.2:c.243G>A	NP_001308875.1:p.Gln81=
NM_001321947.2:c.354G>A	NP_001308876.1:p.Gln118=
NM_001321948.2:c.393G>A	NP_001308877.1:p.Gln131=
NM_001321939.2:c.399G>A	NP_001308868.1:p.Gln133=
NM_001321941.2:c.309G>A	NP_001308870.1:p.Gln103=
NM_001379342.1:c.393G>A	NP_001366271.1:p.Gln131=
NM_004115.4:c.495G>A MANE Select	NP_004106.1:p.Gln165=
NM_175929.3:c.510G>A	NP_787125.1:p.Gln170=