Canonical Allele Identifier: CA355981399

Gene: FGFR3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805561G>C , CM000666.2:g.1805561G>C	GRCh38
NC_000004.11:g.1807288G>C , CM000666.1:g.1807288G>C	GRCh37
NC_000004.10:g.1777086G>C	NCBI36
NG_012632.1:g.17250G>C , LRG_1021:g.17250G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1543G>C	ENSP00000339824.4:p.Asp515His
ENST00000260795.8:c.*593G>C	ENSP00000260795.3:n.*593G>C
ENST00000352904.6:c.1201G>C	ENSP00000231803.1:p.Asp401His
ENST00000412135.7:c.1525G>C	ENSP00000412903.3:p.Asp509His
ENST00000440486.8:c.1537G>C MANE Select	ENSP00000414914.2:p.Asp513His
ENST00000481110.7:c.1540G>C	ENSP00000420533.2:p.Asp514His
ENST00000260795.6:c.1537G>C	ENSP00000260795.2:p.Asp513His
ENST00000340107.8:c.1543G>C	ENSP00000339824.4:p.Asp515His
ENST00000352904.5:c.1201G>C	ENSP00000231803.1:p.Asp401His
ENST00000412135.6:c.1201G>C	ENSP00000412903.2:p.Asp401His
ENST00000440486.6:c.1537G>C	ENSP00000414914.2:p.Asp513His
ENST00000469068.1:n.603G>C
ENST00000481110.6:c.1540G>C	ENSP00000420533.2:p.Asp514His
ENST00000613647.4:c.*593G>C	ENSP00000479472.1:n.*593G>C
NM_000142.4:c.1537G>C , LRG_1021t1:c.1537G>C	NP_000133.1:p.Asp513His
NM_001163213.1:c.1543G>C , LRG_1021t2:c.1543G>C	NP_001156685.1:p.Asp515His
NM_022965.3:c.1201G>C	NP_075254.1:p.Asp401His
XM_006713868.1:c.1549G>C	XP_006713931.1:p.Asp517His
XM_006713869.1:c.1549G>C	XP_006713932.1:p.Asp517His
XM_006713870.1:c.1546G>C	XP_006713933.1:p.Asp516His
XM_006713871.1:c.1543G>C	XP_006713934.1:p.Asp515His
XM_006713872.1:c.1540G>C	XP_006713935.1:p.Asp514His
XM_006713873.1:c.1537G>C	XP_006713936.1:p.Asp513His
XM_011513420.1:c.1543G>C	XP_011511722.1:p.Asp515His
XM_011513422.1:c.1540G>C	XP_011511724.1:p.Asp514His
NM_001354809.1:c.1540G>C	NP_001341738.1:p.Asp514His
NM_001354810.1:c.1540G>C	NP_001341739.1:p.Asp514His
NR_148971.1:n.1944G>C
NM_001354809.2:c.1540G>C	NP_001341738.1:p.Asp514His
NM_001354810.2:c.1540G>C	NP_001341739.1:p.Asp514His
NR_148971.2:n.1963G>C
NM_000142.5:c.1537G>C MANE Select	NP_000133.1:p.Asp513His
NM_001163213.2:c.1543G>C	NP_001156685.1:p.Asp515His
NM_022965.4:c.1201G>C	NP_075254.1:p.Asp401His