Canonical Allele Identifier: CA1433506343
Community Standard Title: NM_000142.5(FGFR3):c.1052C= (p.Ser351=)
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1803813C= , CM000666.2:g.1803813C= GRCh38
NC_000004.11:g.1805540C= , CM000666.1:g.1805540C= GRCh37
NC_000004.10:g.1775338C= NCBI36
NG_012632.1:g.15502C= , LRG_1021:g.15502C=

Transcript Alleles

HGVS Amino-acid Change
NM_000142.5:c.1052C= MANE Select NP_000133.1:p.Ser351=
ENST00000440486.8:c.1052C= MANE Select ENSP00000414914.2:p.Ser351=
NM_000142.4:c.1052C= , LRG_1021t1:c.1052C= NP_000133.1:p.Ser351=
NM_001163213.1:c.1082-517C= , LRG_1021t2:c.1082-517C= NP_001156685.1:n.1082-517C=
NM_001163213.2:c.1082-517C= NP_001156685.1:n.1082-517C=
NM_001354809.1:c.1052C= NP_001341738.1:p.Ser351=
NM_001354809.2:c.1052C= NP_001341738.1:p.Ser351=
NM_001354810.1:c.1052C= NP_001341739.1:p.Ser351=
NM_001354810.2:c.1052C= NP_001341739.1:p.Ser351=
NM_022965.3:c.931-1011C= NP_075254.1:n.931-1011C=
NM_022965.4:c.931-1011C= NP_075254.1:n.931-1011C=
NR_148971.1:n.1459C=
NR_148971.2:n.1478C=
ENST00000260795.6:c.1052C= ENSP00000260795.2:p.Ser351=
ENST00000260795.8:c.*108C= ENSP00000260795.3:n.*108C=
ENST00000340107.8:c.1082-517C= ENSP00000339824.4:n.1082-517C=
ENST00000340107.9:c.1082-517C= ENSP00000339824.4:n.1082-517C=
ENST00000352904.5:c.931-1011C= ENSP00000231803.1:n.931-1011C=
ENST00000352904.6:c.931-1011C= ENSP00000231803.1:n.931-1011C=
ENST00000412135.6:c.931-1011C= ENSP00000412903.2:n.931-1011C=
ENST00000412135.7:c.1040C= ENSP00000412903.3:p.Ser347=
ENST00000440486.6:c.1052C= ENSP00000414914.2:p.Ser351=
ENST00000481110.6:c.1052C= ENSP00000420533.2:p.Ser351=
ENST00000481110.7:c.1052C= ENSP00000420533.2:p.Ser351=
ENST00000613647.4:c.*108C= ENSP00000479472.1:n.*108C=
ENST00000643463.1:n.227-517C=
XM_006713868.1:c.1082-517C= XP_006713931.1:n.1082-517C=
XM_006713869.1:c.1082-517C= XP_006713932.1:n.1082-517C=
XM_006713870.1:c.1082-517C= XP_006713933.1:n.1082-517C=
XM_006713871.1:c.1082-517C= XP_006713934.1:n.1082-517C=
XM_006713872.1:c.1052C= XP_006713935.1:p.Ser351=
XM_006713873.1:c.1052C= XP_006713936.1:p.Ser351=
XM_011513420.1:c.1052C= XP_011511722.1:p.Ser351=
XM_011513422.1:c.1052C= XP_011511724.1:p.Ser351=