Canonical Allele Identifier: CA1433507275
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs1721735770
gnomAD v4: 4-1805230-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805230C>T , CM000666.2:g.1805230C>T GRCh38
NC_000004.11:g.1806957C>T , CM000666.1:g.1806957C>T GRCh37
NC_000004.10:g.1776755C>T NCBI36
NG_012632.1:g.16919C>T , LRG_1021:g.16919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1419-125C>T ENSP00000339824.4:n.1419-125C>T
ENST00000260795.8:c.*469-125C>T ENSP00000260795.3:n.*469-125C>T
ENST00000352904.6:c.1077-125C>T ENSP00000231803.1:n.1077-125C>T
ENST00000412135.7:c.1401-125C>T ENSP00000412903.3:n.1401-125C>T
ENST00000440486.8:c.1413-125C>T MANE Select ENSP00000414914.2:n.1413-125C>T
ENST00000481110.7:c.1416-125C>T ENSP00000420533.2:n.1416-125C>T
ENST00000260795.6:c.1413-125C>T ENSP00000260795.2:n.1413-125C>T
ENST00000340107.8:c.1419-125C>T ENSP00000339824.4:n.1419-125C>T
ENST00000352904.5:c.1077-125C>T ENSP00000231803.1:n.1077-125C>T
ENST00000412135.6:c.1077-125C>T ENSP00000412903.2:n.1077-125C>T
ENST00000440486.6:c.1413-125C>T ENSP00000414914.2:n.1413-125C>T
ENST00000469068.1:n.479-125C>T
ENST00000481110.6:c.1416-125C>T ENSP00000420533.2:n.1416-125C>T
ENST00000613647.4:c.*469-125C>T ENSP00000479472.1:n.*469-125C>T
NM_000142.4:c.1413-125C>T , LRG_1021t1:c.1413-125C>T NP_000133.1:n.1413-125C>T
NM_001163213.1:c.1419-125C>T , LRG_1021t2:c.1419-125C>T NP_001156685.1:n.1419-125C>T
NM_022965.3:c.1077-125C>T NP_075254.1:n.1077-125C>T
XM_006713868.1:c.1425-125C>T XP_006713931.1:n.1425-125C>T
XM_006713869.1:c.1425-125C>T XP_006713932.1:n.1425-125C>T
XM_006713870.1:c.1422-125C>T XP_006713933.1:n.1422-125C>T
XM_006713871.1:c.1419-125C>T XP_006713934.1:n.1419-125C>T
XM_006713872.1:c.1416-125C>T XP_006713935.1:n.1416-125C>T
XM_006713873.1:c.1413-125C>T XP_006713936.1:n.1413-125C>T
XM_011513420.1:c.1419-125C>T XP_011511722.1:n.1419-125C>T
XM_011513422.1:c.1416-125C>T XP_011511724.1:n.1416-125C>T
NM_001354809.1:c.1416-125C>T NP_001341738.1:n.1416-125C>T
NM_001354810.1:c.1416-125C>T NP_001341739.1:n.1416-125C>T
NR_148971.1:n.1820-125C>T
NM_001354809.2:c.1416-125C>T NP_001341738.1:n.1416-125C>T
NM_001354810.2:c.1416-125C>T NP_001341739.1:n.1416-125C>T
NR_148971.2:n.1839-125C>T
NM_000142.5:c.1413-125C>T MANE Select NP_000133.1:n.1413-125C>T
NM_001163213.2:c.1419-125C>T NP_001156685.1:n.1419-125C>T
NM_022965.4:c.1077-125C>T NP_075254.1:n.1077-125C>T