Canonical Allele Identifier: CA1058515235

Gene: FGFR3

Linked Data

• dbSNP Id: rs1412892331
• gnomAD v3: 4-1805503-G-C
• gnomAD v4: 4-1805503-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805503G>C , CM000666.2:g.1805503G>C	GRCh38
NC_000004.11:g.1807230G>C , CM000666.1:g.1807230G>C	GRCh37
NC_000004.10:g.1777028G>C	NCBI36
NG_012632.1:g.17192G>C , LRG_1021:g.17192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1540+27G>C	ENSP00000339824.4:n.1540+27G>C
ENST00000260795.8:c.*590+27G>C	ENSP00000260795.3:n.*590+27G>C
ENST00000352904.6:c.1198+27G>C	ENSP00000231803.1:n.1198+27G>C
ENST00000412135.7:c.1522+27G>C	ENSP00000412903.3:n.1522+27G>C
ENST00000440486.8:c.1534+27G>C MANE Select	ENSP00000414914.2:n.1534+27G>C
ENST00000481110.7:c.1537+27G>C	ENSP00000420533.2:n.1537+27G>C
ENST00000260795.6:c.1534+27G>C	ENSP00000260795.2:n.1534+27G>C
ENST00000340107.8:c.1540+27G>C	ENSP00000339824.4:n.1540+27G>C
ENST00000352904.5:c.1198+27G>C	ENSP00000231803.1:n.1198+27G>C
ENST00000412135.6:c.1198+27G>C	ENSP00000412903.2:n.1198+27G>C
ENST00000440486.6:c.1534+27G>C	ENSP00000414914.2:n.1534+27G>C
ENST00000469068.1:n.600+27G>C
ENST00000481110.6:c.1537+27G>C	ENSP00000420533.2:n.1537+27G>C
ENST00000613647.4:c.*590+27G>C	ENSP00000479472.1:n.*590+27G>C
NM_000142.4:c.1534+27G>C , LRG_1021t1:c.1534+27G>C	NP_000133.1:n.1534+27G>C
NM_001163213.1:c.1540+27G>C , LRG_1021t2:c.1540+27G>C	NP_001156685.1:n.1540+27G>C
NM_022965.3:c.1198+27G>C	NP_075254.1:n.1198+27G>C
XM_006713868.1:c.1546+27G>C	XP_006713931.1:n.1546+27G>C
XM_006713869.1:c.1546+27G>C	XP_006713932.1:n.1546+27G>C
XM_006713870.1:c.1543+27G>C	XP_006713933.1:n.1543+27G>C
XM_006713871.1:c.1540+27G>C	XP_006713934.1:n.1540+27G>C
XM_006713872.1:c.1537+27G>C	XP_006713935.1:n.1537+27G>C
XM_006713873.1:c.1534+27G>C	XP_006713936.1:n.1534+27G>C
XM_011513420.1:c.1540+27G>C	XP_011511722.1:n.1540+27G>C
XM_011513422.1:c.1537+27G>C	XP_011511724.1:n.1537+27G>C
NM_001354809.1:c.1537+27G>C	NP_001341738.1:n.1537+27G>C
NM_001354810.1:c.1537+27G>C	NP_001341739.1:n.1537+27G>C
NR_148971.1:n.1941+27G>C
NM_001354809.2:c.1537+27G>C	NP_001341738.1:n.1537+27G>C
NM_001354810.2:c.1537+27G>C	NP_001341739.1:n.1537+27G>C
NR_148971.2:n.1960+27G>C
NM_000142.5:c.1534+27G>C MANE Select	NP_000133.1:n.1534+27G>C
NM_001163213.2:c.1540+27G>C	NP_001156685.1:n.1540+27G>C
NM_022965.4:c.1198+27G>C	NP_075254.1:n.1198+27G>C