Canonical Allele Identifier: CA355986104
Community Standard Title: NM_000142.5(FGFR3):c.2269A>T (p.Thr757Ser)
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1806929A>T , CM000666.2:g.1806929A>T GRCh38
NC_000004.11:g.1808656A>T , CM000666.1:g.1808656A>T GRCh37
NC_000004.10:g.1778454A>T NCBI36
NG_012632.1:g.18618A>T , LRG_1021:g.18618A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000142.5:c.2269A>T MANE Select NP_000133.1:p.Thr757Ser
ENST00000440486.8:c.2269A>T MANE Select ENSP00000414914.2:p.Thr757Ser
NM_000142.4:c.2269A>T , LRG_1021t1:c.2269A>T NP_000133.1:p.Thr757Ser
NM_001163213.1:c.2275A>T , LRG_1021t2:c.2275A>T NP_001156685.1:p.Thr759Ser
NM_001163213.2:c.2275A>T NP_001156685.1:p.Thr759Ser
NM_001354809.1:c.2272A>T NP_001341738.1:p.Thr758Ser
NM_001354809.2:c.2272A>T NP_001341738.1:p.Thr758Ser
NM_001354810.1:c.2201A>T NP_001341739.1:p.His734Leu
NM_001354810.2:c.2201A>T NP_001341739.1:p.His734Leu
NM_022965.3:c.1933A>T NP_075254.1:p.Thr645Ser
NM_022965.4:c.1933A>T NP_075254.1:p.Thr645Ser
NR_148971.1:n.2676A>T
NR_148971.2:n.2695A>T
ENST00000260795.6:c.2269A>T ENSP00000260795.2:p.Thr757Ser
ENST00000260795.8:c.*1325A>T ENSP00000260795.3:n.*1325A>T
ENST00000340107.8:c.2275A>T ENSP00000339824.4:p.Thr759Ser
ENST00000340107.9:c.2275A>T ENSP00000339824.4:p.Thr759Ser
ENST00000352904.5:c.1933A>T ENSP00000231803.1:p.Thr645Ser
ENST00000352904.6:c.1933A>T ENSP00000231803.1:p.Thr645Ser
ENST00000412135.6:c.1933A>T ENSP00000412903.2:p.Thr645Ser
ENST00000412135.7:c.2257A>T ENSP00000412903.3:p.Thr753Ser
ENST00000440486.6:c.2269A>T ENSP00000414914.2:p.Thr757Ser
ENST00000481110.6:c.2201A>T ENSP00000420533.2:p.His734Leu
ENST00000481110.7:c.2201A>T ENSP00000420533.2:p.His734Leu
ENST00000613647.4:c.*1325A>T ENSP00000479472.1:n.*1325A>T
XM_006713868.1:c.2281A>T XP_006713931.1:p.Thr761Ser
XM_006713869.1:c.2281A>T XP_006713932.1:p.Thr761Ser
XM_006713870.1:c.2278A>T XP_006713933.1:p.Thr760Ser
XM_006713871.1:c.2275A>T XP_006713934.1:p.Thr759Ser
XM_006713872.1:c.2272A>T XP_006713935.1:p.Thr758Ser
XM_006713873.1:c.2269A>T XP_006713936.1:p.Thr757Ser
XM_011513420.1:c.2275A>T XP_011511722.1:p.Thr759Ser
XM_011513422.1:c.2272A>T XP_011511724.1:p.Thr758Ser