Canonical Allele Identifier: CA549176201
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs1459346538
gnomAD v2: 4-1807037-G-A
gnomAD v4: 4-1805310-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805310G>A , CM000666.2:g.1805310G>A GRCh38
NC_000004.11:g.1807037G>A , CM000666.1:g.1807037G>A GRCh37
NC_000004.10:g.1776835G>A NCBI36
NG_012632.1:g.16999G>A , LRG_1021:g.16999G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1419-45G>A ENSP00000339824.4:n.1419-45G>A
ENST00000260795.8:c.*469-45G>A ENSP00000260795.3:n.*469-45G>A
ENST00000352904.6:c.1077-45G>A ENSP00000231803.1:n.1077-45G>A
ENST00000412135.7:c.1401-45G>A ENSP00000412903.3:n.1401-45G>A
ENST00000440486.8:c.1413-45G>A MANE Select ENSP00000414914.2:n.1413-45G>A
ENST00000481110.7:c.1416-45G>A ENSP00000420533.2:n.1416-45G>A
ENST00000260795.6:c.1413-45G>A ENSP00000260795.2:n.1413-45G>A
ENST00000340107.8:c.1419-45G>A ENSP00000339824.4:n.1419-45G>A
ENST00000352904.5:c.1077-45G>A ENSP00000231803.1:n.1077-45G>A
ENST00000412135.6:c.1077-45G>A ENSP00000412903.2:n.1077-45G>A
ENST00000440486.6:c.1413-45G>A ENSP00000414914.2:n.1413-45G>A
ENST00000469068.1:n.479-45G>A
ENST00000481110.6:c.1416-45G>A ENSP00000420533.2:n.1416-45G>A
ENST00000613647.4:c.*469-45G>A ENSP00000479472.1:n.*469-45G>A
NM_000142.4:c.1413-45G>A , LRG_1021t1:c.1413-45G>A NP_000133.1:n.1413-45G>A
NM_001163213.1:c.1419-45G>A , LRG_1021t2:c.1419-45G>A NP_001156685.1:n.1419-45G>A
NM_022965.3:c.1077-45G>A NP_075254.1:n.1077-45G>A
XM_006713868.1:c.1425-45G>A XP_006713931.1:n.1425-45G>A
XM_006713869.1:c.1425-45G>A XP_006713932.1:n.1425-45G>A
XM_006713870.1:c.1422-45G>A XP_006713933.1:n.1422-45G>A
XM_006713871.1:c.1419-45G>A XP_006713934.1:n.1419-45G>A
XM_006713872.1:c.1416-45G>A XP_006713935.1:n.1416-45G>A
XM_006713873.1:c.1413-45G>A XP_006713936.1:n.1413-45G>A
XM_011513420.1:c.1419-45G>A XP_011511722.1:n.1419-45G>A
XM_011513422.1:c.1416-45G>A XP_011511724.1:n.1416-45G>A
NM_001354809.1:c.1416-45G>A NP_001341738.1:n.1416-45G>A
NM_001354810.1:c.1416-45G>A NP_001341739.1:n.1416-45G>A
NR_148971.1:n.1820-45G>A
NM_001354809.2:c.1416-45G>A NP_001341738.1:n.1416-45G>A
NM_001354810.2:c.1416-45G>A NP_001341739.1:n.1416-45G>A
NR_148971.2:n.1839-45G>A
NM_000142.5:c.1413-45G>A MANE Select NP_000133.1:n.1413-45G>A
NM_001163213.2:c.1419-45G>A NP_001156685.1:n.1419-45G>A
NM_022965.4:c.1077-45G>A NP_075254.1:n.1077-45G>A