Canonical Allele Identifier: CA355981256
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805458G>T , CM000666.2:g.1805458G>T GRCh38
NC_000004.11:g.1807185G>T , CM000666.1:g.1807185G>T GRCh37
NC_000004.10:g.1776983G>T NCBI36
NG_012632.1:g.17147G>T , LRG_1021:g.17147G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1522G>T ENSP00000339824.4:p.Ala508Ser
ENST00000260795.8:c.*572G>T ENSP00000260795.3:n.*572G>T
ENST00000352904.6:c.1180G>T ENSP00000231803.1:p.Ala394Ser
ENST00000412135.7:c.1504G>T ENSP00000412903.3:p.Ala502Ser
ENST00000440486.8:c.1516G>T MANE Select ENSP00000414914.2:p.Ala506Ser
ENST00000481110.7:c.1519G>T ENSP00000420533.2:p.Ala507Ser
ENST00000260795.6:c.1516G>T ENSP00000260795.2:p.Ala506Ser
ENST00000340107.8:c.1522G>T ENSP00000339824.4:p.Ala508Ser
ENST00000352904.5:c.1180G>T ENSP00000231803.1:p.Ala394Ser
ENST00000412135.6:c.1180G>T ENSP00000412903.2:p.Ala394Ser
ENST00000440486.6:c.1516G>T ENSP00000414914.2:p.Ala506Ser
ENST00000469068.1:n.582G>T
ENST00000481110.6:c.1519G>T ENSP00000420533.2:p.Ala507Ser
ENST00000613647.4:c.*572G>T ENSP00000479472.1:n.*572G>T
NM_000142.4:c.1516G>T , LRG_1021t1:c.1516G>T NP_000133.1:p.Ala506Ser
NM_001163213.1:c.1522G>T , LRG_1021t2:c.1522G>T NP_001156685.1:p.Ala508Ser
NM_022965.3:c.1180G>T NP_075254.1:p.Ala394Ser
XM_006713868.1:c.1528G>T XP_006713931.1:p.Ala510Ser
XM_006713869.1:c.1528G>T XP_006713932.1:p.Ala510Ser
XM_006713870.1:c.1525G>T XP_006713933.1:p.Ala509Ser
XM_006713871.1:c.1522G>T XP_006713934.1:p.Ala508Ser
XM_006713872.1:c.1519G>T XP_006713935.1:p.Ala507Ser
XM_006713873.1:c.1516G>T XP_006713936.1:p.Ala506Ser
XM_011513420.1:c.1522G>T XP_011511722.1:p.Ala508Ser
XM_011513422.1:c.1519G>T XP_011511724.1:p.Ala507Ser
NM_001354809.1:c.1519G>T NP_001341738.1:p.Ala507Ser
NM_001354810.1:c.1519G>T NP_001341739.1:p.Ala507Ser
NR_148971.1:n.1923G>T
NM_001354809.2:c.1519G>T NP_001341738.1:p.Ala507Ser
NM_001354810.2:c.1519G>T NP_001341739.1:p.Ala507Ser
NR_148971.2:n.1942G>T
NM_000142.5:c.1516G>T MANE Select NP_000133.1:p.Ala506Ser
NM_001163213.2:c.1522G>T NP_001156685.1:p.Ala508Ser
NM_022965.4:c.1180G>T NP_075254.1:p.Ala394Ser