Canonical Allele Identifier: CA355975326
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1801522A>C , CM000666.2:g.1801522A>C GRCh38
NC_000004.11:g.1803249A>C , CM000666.1:g.1803249A>C GRCh37
NC_000004.10:g.1773047A>C NCBI36
NG_012632.1:g.13211A>C , LRG_1021:g.13211A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.601A>C ENSP00000339824.4:p.Ile201Leu
ENST00000260795.8:c.601A>C ENSP00000260795.3:p.Ile201Leu
ENST00000352904.6:c.601A>C ENSP00000231803.1:p.Ile201Leu
ENST00000412135.7:c.589A>C ENSP00000412903.3:p.Ile197Leu
ENST00000440486.8:c.601A>C MANE Select ENSP00000414914.2:p.Ile201Leu
ENST00000481110.7:c.601A>C ENSP00000420533.2:p.Ile201Leu
ENST00000260795.6:c.601A>C ENSP00000260795.2:p.Ile201Leu
ENST00000340107.8:c.601A>C ENSP00000339824.4:p.Ile201Leu
ENST00000352904.5:c.601A>C ENSP00000231803.1:p.Ile201Leu
ENST00000412135.6:c.601A>C ENSP00000412903.2:p.Ile201Leu
ENST00000440486.6:c.601A>C ENSP00000414914.2:p.Ile201Leu
ENST00000481110.6:c.601A>C ENSP00000420533.2:p.Ile201Leu
ENST00000507588.1:c.61A>C ENSP00000427289.1:p.Ile21Leu
ENST00000613647.4:c.601A>C ENSP00000479472.1:p.Ile201Leu
NM_000142.4:c.601A>C , LRG_1021t1:c.601A>C NP_000133.1:p.Ile201Leu
NM_001163213.1:c.601A>C , LRG_1021t2:c.601A>C NP_001156685.1:p.Ile201Leu
NM_022965.3:c.601A>C NP_075254.1:p.Ile201Leu
XM_006713868.1:c.601A>C XP_006713931.1:p.Ile201Leu
XM_006713869.1:c.601A>C XP_006713932.1:p.Ile201Leu
XM_006713870.1:c.601A>C XP_006713933.1:p.Ile201Leu
XM_006713871.1:c.601A>C XP_006713934.1:p.Ile201Leu
XM_006713872.1:c.601A>C XP_006713935.1:p.Ile201Leu
XM_006713873.1:c.601A>C XP_006713936.1:p.Ile201Leu
XM_011513420.1:c.601A>C XP_011511722.1:p.Ile201Leu
XM_011513422.1:c.601A>C XP_011511724.1:p.Ile201Leu
NM_001354809.1:c.601A>C NP_001341738.1:p.Ile201Leu
NM_001354810.1:c.601A>C NP_001341739.1:p.Ile201Leu
NR_148971.1:n.857A>C
NM_001354809.2:c.601A>C NP_001341738.1:p.Ile201Leu
NM_001354810.2:c.601A>C NP_001341739.1:p.Ile201Leu
NR_148971.2:n.876A>C
NM_000142.5:c.601A>C MANE Select NP_000133.1:p.Ile201Leu
NM_001163213.2:c.601A>C NP_001156685.1:p.Ile201Leu
NM_022965.4:c.601A>C NP_075254.1:p.Ile201Leu