Canonical Allele Identifier: CA355981199
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805443A>T , CM000666.2:g.1805443A>T GRCh38
NC_000004.11:g.1807170A>T , CM000666.1:g.1807170A>T GRCh37
NC_000004.10:g.1776968A>T NCBI36
NG_012632.1:g.17132A>T , LRG_1021:g.17132A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1507A>T ENSP00000339824.4:p.Lys503Ter
ENST00000260795.8:c.*557A>T ENSP00000260795.3:n.*557A>T
ENST00000352904.6:c.1165A>T ENSP00000231803.1:p.Lys389Ter
ENST00000412135.7:c.1489A>T ENSP00000412903.3:p.Lys497Ter
ENST00000440486.8:c.1501A>T MANE Select ENSP00000414914.2:p.Lys501Ter
ENST00000481110.7:c.1504A>T ENSP00000420533.2:p.Lys502Ter
ENST00000260795.6:c.1501A>T ENSP00000260795.2:p.Lys501Ter
ENST00000340107.8:c.1507A>T ENSP00000339824.4:p.Lys503Ter
ENST00000352904.5:c.1165A>T ENSP00000231803.1:p.Lys389Ter
ENST00000412135.6:c.1165A>T ENSP00000412903.2:p.Lys389Ter
ENST00000440486.6:c.1501A>T ENSP00000414914.2:p.Lys501Ter
ENST00000469068.1:n.567A>T
ENST00000481110.6:c.1504A>T ENSP00000420533.2:p.Lys502Ter
ENST00000613647.4:c.*557A>T ENSP00000479472.1:n.*557A>T
NM_000142.4:c.1501A>T , LRG_1021t1:c.1501A>T NP_000133.1:p.Lys501Ter
NM_001163213.1:c.1507A>T , LRG_1021t2:c.1507A>T NP_001156685.1:p.Lys503Ter
NM_022965.3:c.1165A>T NP_075254.1:p.Lys389Ter
XM_006713868.1:c.1513A>T XP_006713931.1:p.Lys505Ter
XM_006713869.1:c.1513A>T XP_006713932.1:p.Lys505Ter
XM_006713870.1:c.1510A>T XP_006713933.1:p.Lys504Ter
XM_006713871.1:c.1507A>T XP_006713934.1:p.Lys503Ter
XM_006713872.1:c.1504A>T XP_006713935.1:p.Lys502Ter
XM_006713873.1:c.1501A>T XP_006713936.1:p.Lys501Ter
XM_011513420.1:c.1507A>T XP_011511722.1:p.Lys503Ter
XM_011513422.1:c.1504A>T XP_011511724.1:p.Lys502Ter
NM_001354809.1:c.1504A>T NP_001341738.1:p.Lys502Ter
NM_001354810.1:c.1504A>T NP_001341739.1:p.Lys502Ter
NR_148971.1:n.1908A>T
NM_001354809.2:c.1504A>T NP_001341738.1:p.Lys502Ter
NM_001354810.2:c.1504A>T NP_001341739.1:p.Lys502Ter
NR_148971.2:n.1927A>T
NM_000142.5:c.1501A>T MANE Select NP_000133.1:p.Lys501Ter
NM_001163213.2:c.1507A>T NP_001156685.1:p.Lys503Ter
NM_022965.4:c.1165A>T NP_075254.1:p.Lys389Ter