Canonical Allele Identifier: CA355981678
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805768T>C , CM000666.2:g.1805768T>C GRCh38
NC_000004.11:g.1807495T>C , CM000666.1:g.1807495T>C GRCh37
NC_000004.10:g.1777293T>C NCBI36
NG_012632.1:g.17457T>C , LRG_1021:g.17457T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1670T>C ENSP00000339824.4:p.Val557Ala
ENST00000260795.8:c.*720T>C ENSP00000260795.3:n.*720T>C
ENST00000352904.6:c.1328T>C ENSP00000231803.1:p.Val443Ala
ENST00000412135.7:c.1652T>C ENSP00000412903.3:p.Val551Ala
ENST00000440486.8:c.1664T>C MANE Select ENSP00000414914.2:p.Val555Ala
ENST00000481110.7:c.1667T>C ENSP00000420533.2:p.Val556Ala
ENST00000260795.6:c.1664T>C ENSP00000260795.2:p.Val555Ala
ENST00000340107.8:c.1670T>C ENSP00000339824.4:p.Val557Ala
ENST00000352904.5:c.1328T>C ENSP00000231803.1:p.Val443Ala
ENST00000412135.6:c.1328T>C ENSP00000412903.2:p.Val443Ala
ENST00000440486.6:c.1664T>C ENSP00000414914.2:p.Val555Ala
ENST00000469068.1:n.730T>C
ENST00000481110.6:c.1667T>C ENSP00000420533.2:p.Val556Ala
ENST00000613647.4:c.*720T>C ENSP00000479472.1:n.*720T>C
NM_000142.4:c.1664T>C , LRG_1021t1:c.1664T>C NP_000133.1:p.Val555Ala
NM_001163213.1:c.1670T>C , LRG_1021t2:c.1670T>C NP_001156685.1:p.Val557Ala
NM_022965.3:c.1328T>C NP_075254.1:p.Val443Ala
XM_006713868.1:c.1676T>C XP_006713931.1:p.Val559Ala
XM_006713869.1:c.1676T>C XP_006713932.1:p.Val559Ala
XM_006713870.1:c.1673T>C XP_006713933.1:p.Val558Ala
XM_006713871.1:c.1670T>C XP_006713934.1:p.Val557Ala
XM_006713872.1:c.1667T>C XP_006713935.1:p.Val556Ala
XM_006713873.1:c.1664T>C XP_006713936.1:p.Val555Ala
XM_011513420.1:c.1670T>C XP_011511722.1:p.Val557Ala
XM_011513422.1:c.1667T>C XP_011511724.1:p.Val556Ala
NM_001354809.1:c.1667T>C NP_001341738.1:p.Val556Ala
NM_001354810.1:c.1667T>C NP_001341739.1:p.Val556Ala
NR_148971.1:n.2071T>C
NM_001354809.2:c.1667T>C NP_001341738.1:p.Val556Ala
NM_001354810.2:c.1667T>C NP_001341739.1:p.Val556Ala
NR_148971.2:n.2090T>C
NM_000142.5:c.1664T>C MANE Select NP_000133.1:p.Val555Ala
NM_001163213.2:c.1670T>C NP_001156685.1:p.Val557Ala
NM_022965.4:c.1328T>C NP_075254.1:p.Val443Ala