Canonical Allele Identifier: CA355981220
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805449G>T , CM000666.2:g.1805449G>T GRCh38
NC_000004.11:g.1807176G>T , CM000666.1:g.1807176G>T GRCh37
NC_000004.10:g.1776974G>T NCBI36
NG_012632.1:g.17138G>T , LRG_1021:g.17138G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1513G>T ENSP00000339824.4:p.Val505Phe
ENST00000260795.8:c.*563G>T ENSP00000260795.3:n.*563G>T
ENST00000352904.6:c.1171G>T ENSP00000231803.1:p.Val391Phe
ENST00000412135.7:c.1495G>T ENSP00000412903.3:p.Val499Phe
ENST00000440486.8:c.1507G>T MANE Select ENSP00000414914.2:p.Val503Phe
ENST00000481110.7:c.1510G>T ENSP00000420533.2:p.Val504Phe
ENST00000260795.6:c.1507G>T ENSP00000260795.2:p.Val503Phe
ENST00000340107.8:c.1513G>T ENSP00000339824.4:p.Val505Phe
ENST00000352904.5:c.1171G>T ENSP00000231803.1:p.Val391Phe
ENST00000412135.6:c.1171G>T ENSP00000412903.2:p.Val391Phe
ENST00000440486.6:c.1507G>T ENSP00000414914.2:p.Val503Phe
ENST00000469068.1:n.573G>T
ENST00000481110.6:c.1510G>T ENSP00000420533.2:p.Val504Phe
ENST00000613647.4:c.*563G>T ENSP00000479472.1:n.*563G>T
NM_000142.4:c.1507G>T , LRG_1021t1:c.1507G>T NP_000133.1:p.Val503Phe
NM_001163213.1:c.1513G>T , LRG_1021t2:c.1513G>T NP_001156685.1:p.Val505Phe
NM_022965.3:c.1171G>T NP_075254.1:p.Val391Phe
XM_006713868.1:c.1519G>T XP_006713931.1:p.Val507Phe
XM_006713869.1:c.1519G>T XP_006713932.1:p.Val507Phe
XM_006713870.1:c.1516G>T XP_006713933.1:p.Val506Phe
XM_006713871.1:c.1513G>T XP_006713934.1:p.Val505Phe
XM_006713872.1:c.1510G>T XP_006713935.1:p.Val504Phe
XM_006713873.1:c.1507G>T XP_006713936.1:p.Val503Phe
XM_011513420.1:c.1513G>T XP_011511722.1:p.Val505Phe
XM_011513422.1:c.1510G>T XP_011511724.1:p.Val504Phe
NM_001354809.1:c.1510G>T NP_001341738.1:p.Val504Phe
NM_001354810.1:c.1510G>T NP_001341739.1:p.Val504Phe
NR_148971.1:n.1914G>T
NM_001354809.2:c.1510G>T NP_001341738.1:p.Val504Phe
NM_001354810.2:c.1510G>T NP_001341739.1:p.Val504Phe
NR_148971.2:n.1933G>T
NM_000142.5:c.1507G>T MANE Select NP_000133.1:p.Val503Phe
NM_001163213.2:c.1513G>T NP_001156685.1:p.Val505Phe
NM_022965.4:c.1171G>T NP_075254.1:p.Val391Phe