Canonical Allele Identifier: CA355982342
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs2108806627

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1806084C>G , CM000666.2:g.1806084C>G GRCh38
NC_000004.11:g.1807811C>G , CM000666.1:g.1807811C>G GRCh37
NC_000004.10:g.1777609C>G NCBI36
NG_012632.1:g.17773C>G , LRG_1021:g.17773C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1876C>G ENSP00000339824.4:p.Leu626Val
ENST00000260795.8:c.*926C>G ENSP00000260795.3:n.*926C>G
ENST00000352904.6:c.1534C>G ENSP00000231803.1:p.Leu512Val
ENST00000412135.7:c.1858C>G ENSP00000412903.3:p.Leu620Val
ENST00000440486.8:c.1870C>G MANE Select ENSP00000414914.2:p.Leu624Val
ENST00000481110.7:c.1873C>G ENSP00000420533.2:p.Leu625Val
ENST00000260795.6:c.1870C>G ENSP00000260795.2:p.Leu624Val
ENST00000340107.8:c.1876C>G ENSP00000339824.4:p.Leu626Val
ENST00000352904.5:c.1534C>G ENSP00000231803.1:p.Leu512Val
ENST00000412135.6:c.1534C>G ENSP00000412903.2:p.Leu512Val
ENST00000440486.6:c.1870C>G ENSP00000414914.2:p.Leu624Val
ENST00000481110.6:c.1873C>G ENSP00000420533.2:p.Leu625Val
ENST00000613647.4:c.*926C>G ENSP00000479472.1:n.*926C>G
NM_000142.4:c.1870C>G , LRG_1021t1:c.1870C>G NP_000133.1:p.Leu624Val
NM_001163213.1:c.1876C>G , LRG_1021t2:c.1876C>G NP_001156685.1:p.Leu626Val
NM_022965.3:c.1534C>G NP_075254.1:p.Leu512Val
XM_006713868.1:c.1882C>G XP_006713931.1:p.Leu628Val
XM_006713869.1:c.1882C>G XP_006713932.1:p.Leu628Val
XM_006713870.1:c.1879C>G XP_006713933.1:p.Leu627Val
XM_006713871.1:c.1876C>G XP_006713934.1:p.Leu626Val
XM_006713872.1:c.1873C>G XP_006713935.1:p.Leu625Val
XM_006713873.1:c.1870C>G XP_006713936.1:p.Leu624Val
XM_011513420.1:c.1876C>G XP_011511722.1:p.Leu626Val
XM_011513422.1:c.1873C>G XP_011511724.1:p.Leu625Val
NM_001354809.1:c.1873C>G NP_001341738.1:p.Leu625Val
NM_001354810.1:c.1873C>G NP_001341739.1:p.Leu625Val
NR_148971.1:n.2277C>G
NM_001354809.2:c.1873C>G NP_001341738.1:p.Leu625Val
NM_001354810.2:c.1873C>G NP_001341739.1:p.Leu625Val
NR_148971.2:n.2296C>G
NM_000142.5:c.1870C>G MANE Select NP_000133.1:p.Leu624Val
NM_001163213.2:c.1876C>G NP_001156685.1:p.Leu626Val
NM_022965.4:c.1534C>G NP_075254.1:p.Leu512Val