Canonical Allele Identifier: CA355981318
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805474A>T , CM000666.2:g.1805474A>T GRCh38
NC_000004.11:g.1807201A>T , CM000666.1:g.1807201A>T GRCh37
NC_000004.10:g.1776999A>T NCBI36
NG_012632.1:g.17163A>T , LRG_1021:g.17163A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1538A>T ENSP00000339824.4:p.Lys513Ile
ENST00000260795.8:c.*588A>T ENSP00000260795.3:n.*588A>T
ENST00000352904.6:c.1196A>T ENSP00000231803.1:p.Lys399Ile
ENST00000412135.7:c.1520A>T ENSP00000412903.3:p.Lys507Ile
ENST00000440486.8:c.1532A>T MANE Select ENSP00000414914.2:p.Lys511Ile
ENST00000481110.7:c.1535A>T ENSP00000420533.2:p.Lys512Ile
ENST00000260795.6:c.1532A>T ENSP00000260795.2:p.Lys511Ile
ENST00000340107.8:c.1538A>T ENSP00000339824.4:p.Lys513Ile
ENST00000352904.5:c.1196A>T ENSP00000231803.1:p.Lys399Ile
ENST00000412135.6:c.1196A>T ENSP00000412903.2:p.Lys399Ile
ENST00000440486.6:c.1532A>T ENSP00000414914.2:p.Lys511Ile
ENST00000469068.1:n.598A>T
ENST00000481110.6:c.1535A>T ENSP00000420533.2:p.Lys512Ile
ENST00000613647.4:c.*588A>T ENSP00000479472.1:n.*588A>T
NM_000142.4:c.1532A>T , LRG_1021t1:c.1532A>T NP_000133.1:p.Lys511Ile
NM_001163213.1:c.1538A>T , LRG_1021t2:c.1538A>T NP_001156685.1:p.Lys513Ile
NM_022965.3:c.1196A>T NP_075254.1:p.Lys399Ile
XM_006713868.1:c.1544A>T XP_006713931.1:p.Lys515Ile
XM_006713869.1:c.1544A>T XP_006713932.1:p.Lys515Ile
XM_006713870.1:c.1541A>T XP_006713933.1:p.Lys514Ile
XM_006713871.1:c.1538A>T XP_006713934.1:p.Lys513Ile
XM_006713872.1:c.1535A>T XP_006713935.1:p.Lys512Ile
XM_006713873.1:c.1532A>T XP_006713936.1:p.Lys511Ile
XM_011513420.1:c.1538A>T XP_011511722.1:p.Lys513Ile
XM_011513422.1:c.1535A>T XP_011511724.1:p.Lys512Ile
NM_001354809.1:c.1535A>T NP_001341738.1:p.Lys512Ile
NM_001354810.1:c.1535A>T NP_001341739.1:p.Lys512Ile
NR_148971.1:n.1939A>T
NM_001354809.2:c.1535A>T NP_001341738.1:p.Lys512Ile
NM_001354810.2:c.1535A>T NP_001341739.1:p.Lys512Ile
NR_148971.2:n.1958A>T
NM_000142.5:c.1532A>T MANE Select NP_000133.1:p.Lys511Ile
NM_001163213.2:c.1538A>T NP_001156685.1:p.Lys513Ile
NM_022965.4:c.1196A>T NP_075254.1:p.Lys399Ile