Canonical Allele Identifier: CA2760148232
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805334T>C , CM000666.2:g.1805334T>C GRCh38
NC_000004.11:g.1807061T>C , CM000666.1:g.1807061T>C GRCh37
NC_000004.10:g.1776859T>C NCBI36
NG_012632.1:g.17023T>C , LRG_1021:g.17023T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1419-21T>C ENSP00000339824.4:n.1419-21T>C
ENST00000260795.8:c.*469-21T>C ENSP00000260795.3:n.*469-21T>C
ENST00000352904.6:c.1077-21T>C ENSP00000231803.1:n.1077-21T>C
ENST00000412135.7:c.1401-21T>C ENSP00000412903.3:n.1401-21T>C
ENST00000440486.8:c.1413-21T>C MANE Select ENSP00000414914.2:n.1413-21T>C
ENST00000481110.7:c.1416-21T>C ENSP00000420533.2:n.1416-21T>C
ENST00000260795.6:c.1413-21T>C ENSP00000260795.2:n.1413-21T>C
ENST00000340107.8:c.1419-21T>C ENSP00000339824.4:n.1419-21T>C
ENST00000352904.5:c.1077-21T>C ENSP00000231803.1:n.1077-21T>C
ENST00000412135.6:c.1077-21T>C ENSP00000412903.2:n.1077-21T>C
ENST00000440486.6:c.1413-21T>C ENSP00000414914.2:n.1413-21T>C
ENST00000469068.1:n.479-21T>C
ENST00000481110.6:c.1416-21T>C ENSP00000420533.2:n.1416-21T>C
ENST00000613647.4:c.*469-21T>C ENSP00000479472.1:n.*469-21T>C
NM_000142.4:c.1413-21T>C , LRG_1021t1:c.1413-21T>C NP_000133.1:n.1413-21T>C
NM_001163213.1:c.1419-21T>C , LRG_1021t2:c.1419-21T>C NP_001156685.1:n.1419-21T>C
NM_022965.3:c.1077-21T>C NP_075254.1:n.1077-21T>C
XM_006713868.1:c.1425-21T>C XP_006713931.1:n.1425-21T>C
XM_006713869.1:c.1425-21T>C XP_006713932.1:n.1425-21T>C
XM_006713870.1:c.1422-21T>C XP_006713933.1:n.1422-21T>C
XM_006713871.1:c.1419-21T>C XP_006713934.1:n.1419-21T>C
XM_006713872.1:c.1416-21T>C XP_006713935.1:n.1416-21T>C
XM_006713873.1:c.1413-21T>C XP_006713936.1:n.1413-21T>C
XM_011513420.1:c.1419-21T>C XP_011511722.1:n.1419-21T>C
XM_011513422.1:c.1416-21T>C XP_011511724.1:n.1416-21T>C
NM_001354809.1:c.1416-21T>C NP_001341738.1:n.1416-21T>C
NM_001354810.1:c.1416-21T>C NP_001341739.1:n.1416-21T>C
NR_148971.1:n.1820-21T>C
NM_001354809.2:c.1416-21T>C NP_001341738.1:n.1416-21T>C
NM_001354810.2:c.1416-21T>C NP_001341739.1:n.1416-21T>C
NR_148971.2:n.1839-21T>C
NM_000142.5:c.1413-21T>C MANE Select NP_000133.1:n.1413-21T>C
NM_001163213.2:c.1419-21T>C NP_001156685.1:n.1419-21T>C
NM_022965.4:c.1077-21T>C NP_075254.1:n.1077-21T>C