Canonical Allele Identifier: CA355980869
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805390T>G , CM000666.2:g.1805390T>G GRCh38
NC_000004.11:g.1807117T>G , CM000666.1:g.1807117T>G GRCh37
NC_000004.10:g.1776915T>G NCBI36
NG_012632.1:g.17079T>G , LRG_1021:g.17079T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1454T>G ENSP00000339824.4:p.Phe485Cys
ENST00000260795.8:c.*504T>G ENSP00000260795.3:n.*504T>G
ENST00000352904.6:c.1112T>G ENSP00000231803.1:p.Phe371Cys
ENST00000412135.7:c.1436T>G ENSP00000412903.3:p.Phe479Cys
ENST00000440486.8:c.1448T>G MANE Select ENSP00000414914.2:p.Phe483Cys
ENST00000481110.7:c.1451T>G ENSP00000420533.2:p.Phe484Cys
ENST00000260795.6:c.1448T>G ENSP00000260795.2:p.Phe483Cys
ENST00000340107.8:c.1454T>G ENSP00000339824.4:p.Phe485Cys
ENST00000352904.5:c.1112T>G ENSP00000231803.1:p.Phe371Cys
ENST00000412135.6:c.1112T>G ENSP00000412903.2:p.Phe371Cys
ENST00000440486.6:c.1448T>G ENSP00000414914.2:p.Phe483Cys
ENST00000469068.1:n.514T>G
ENST00000481110.6:c.1451T>G ENSP00000420533.2:p.Phe484Cys
ENST00000613647.4:c.*504T>G ENSP00000479472.1:n.*504T>G
NM_000142.4:c.1448T>G , LRG_1021t1:c.1448T>G NP_000133.1:p.Phe483Cys
NM_001163213.1:c.1454T>G , LRG_1021t2:c.1454T>G NP_001156685.1:p.Phe485Cys
NM_022965.3:c.1112T>G NP_075254.1:p.Phe371Cys
XM_006713868.1:c.1460T>G XP_006713931.1:p.Phe487Cys
XM_006713869.1:c.1460T>G XP_006713932.1:p.Phe487Cys
XM_006713870.1:c.1457T>G XP_006713933.1:p.Phe486Cys
XM_006713871.1:c.1454T>G XP_006713934.1:p.Phe485Cys
XM_006713872.1:c.1451T>G XP_006713935.1:p.Phe484Cys
XM_006713873.1:c.1448T>G XP_006713936.1:p.Phe483Cys
XM_011513420.1:c.1454T>G XP_011511722.1:p.Phe485Cys
XM_011513422.1:c.1451T>G XP_011511724.1:p.Phe484Cys
NM_001354809.1:c.1451T>G NP_001341738.1:p.Phe484Cys
NM_001354810.1:c.1451T>G NP_001341739.1:p.Phe484Cys
NR_148971.1:n.1855T>G
NM_001354809.2:c.1451T>G NP_001341738.1:p.Phe484Cys
NM_001354810.2:c.1451T>G NP_001341739.1:p.Phe484Cys
NR_148971.2:n.1874T>G
NM_000142.5:c.1448T>G MANE Select NP_000133.1:p.Phe483Cys
NM_001163213.2:c.1454T>G NP_001156685.1:p.Phe485Cys
NM_022965.4:c.1112T>G NP_075254.1:p.Phe371Cys