Canonical Allele Identifier: CA355981401
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805562A>C , CM000666.2:g.1805562A>C GRCh38
NC_000004.11:g.1807289A>C , CM000666.1:g.1807289A>C GRCh37
NC_000004.10:g.1777087A>C NCBI36
NG_012632.1:g.17251A>C , LRG_1021:g.17251A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1544A>C ENSP00000339824.4:p.Asp515Ala
ENST00000260795.8:c.*594A>C ENSP00000260795.3:n.*594A>C
ENST00000352904.6:c.1202A>C ENSP00000231803.1:p.Asp401Ala
ENST00000412135.7:c.1526A>C ENSP00000412903.3:p.Asp509Ala
ENST00000440486.8:c.1538A>C MANE Select ENSP00000414914.2:p.Asp513Ala
ENST00000481110.7:c.1541A>C ENSP00000420533.2:p.Asp514Ala
ENST00000260795.6:c.1538A>C ENSP00000260795.2:p.Asp513Ala
ENST00000340107.8:c.1544A>C ENSP00000339824.4:p.Asp515Ala
ENST00000352904.5:c.1202A>C ENSP00000231803.1:p.Asp401Ala
ENST00000412135.6:c.1202A>C ENSP00000412903.2:p.Asp401Ala
ENST00000440486.6:c.1538A>C ENSP00000414914.2:p.Asp513Ala
ENST00000469068.1:n.604A>C
ENST00000481110.6:c.1541A>C ENSP00000420533.2:p.Asp514Ala
ENST00000613647.4:c.*594A>C ENSP00000479472.1:n.*594A>C
NM_000142.4:c.1538A>C , LRG_1021t1:c.1538A>C NP_000133.1:p.Asp513Ala
NM_001163213.1:c.1544A>C , LRG_1021t2:c.1544A>C NP_001156685.1:p.Asp515Ala
NM_022965.3:c.1202A>C NP_075254.1:p.Asp401Ala
XM_006713868.1:c.1550A>C XP_006713931.1:p.Asp517Ala
XM_006713869.1:c.1550A>C XP_006713932.1:p.Asp517Ala
XM_006713870.1:c.1547A>C XP_006713933.1:p.Asp516Ala
XM_006713871.1:c.1544A>C XP_006713934.1:p.Asp515Ala
XM_006713872.1:c.1541A>C XP_006713935.1:p.Asp514Ala
XM_006713873.1:c.1538A>C XP_006713936.1:p.Asp513Ala
XM_011513420.1:c.1544A>C XP_011511722.1:p.Asp515Ala
XM_011513422.1:c.1541A>C XP_011511724.1:p.Asp514Ala
NM_001354809.1:c.1541A>C NP_001341738.1:p.Asp514Ala
NM_001354810.1:c.1541A>C NP_001341739.1:p.Asp514Ala
NR_148971.1:n.1945A>C
NM_001354809.2:c.1541A>C NP_001341738.1:p.Asp514Ala
NM_001354810.2:c.1541A>C NP_001341739.1:p.Asp514Ala
NR_148971.2:n.1964A>C
NM_000142.5:c.1538A>C MANE Select NP_000133.1:p.Asp513Ala
NM_001163213.2:c.1544A>C NP_001156685.1:p.Asp515Ala
NM_022965.4:c.1202A>C NP_075254.1:p.Asp401Ala