Canonical Allele Identifier: CA355981549

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1805629-C-G
• MyVariant Identifiers: chr4:g.1807356C>G (hg19) ; chr4:g.1805629C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805629C>G , CM000666.2:g.1805629C>G	GRCh38
NC_000004.11:g.1807356C>G , CM000666.1:g.1807356C>G	GRCh37
NC_000004.10:g.1777154C>G	NCBI36
NG_012632.1:g.17318C>G , LRG_1021:g.17318C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1611C>G	ENSP00000339824.4:p.His537Gln
ENST00000260795.8:c.*661C>G	ENSP00000260795.3:n.*661C>G
ENST00000352904.6:c.1269C>G	ENSP00000231803.1:p.His423Gln
ENST00000412135.7:c.1593C>G	ENSP00000412903.3:p.His531Gln
ENST00000440486.8:c.1605C>G MANE Select	ENSP00000414914.2:p.His535Gln
ENST00000481110.7:c.1608C>G	ENSP00000420533.2:p.His536Gln
ENST00000260795.6:c.1605C>G	ENSP00000260795.2:p.His535Gln
ENST00000340107.8:c.1611C>G	ENSP00000339824.4:p.His537Gln
ENST00000352904.5:c.1269C>G	ENSP00000231803.1:p.His423Gln
ENST00000412135.6:c.1269C>G	ENSP00000412903.2:p.His423Gln
ENST00000440486.6:c.1605C>G	ENSP00000414914.2:p.His535Gln
ENST00000469068.1:n.671C>G
ENST00000481110.6:c.1608C>G	ENSP00000420533.2:p.His536Gln
ENST00000613647.4:c.*661C>G	ENSP00000479472.1:n.*661C>G
NM_000142.4:c.1605C>G , LRG_1021t1:c.1605C>G	NP_000133.1:p.His535Gln
NM_001163213.1:c.1611C>G , LRG_1021t2:c.1611C>G	NP_001156685.1:p.His537Gln
NM_022965.3:c.1269C>G	NP_075254.1:p.His423Gln
XM_006713868.1:c.1617C>G	XP_006713931.1:p.His539Gln
XM_006713869.1:c.1617C>G	XP_006713932.1:p.His539Gln
XM_006713870.1:c.1614C>G	XP_006713933.1:p.His538Gln
XM_006713871.1:c.1611C>G	XP_006713934.1:p.His537Gln
XM_006713872.1:c.1608C>G	XP_006713935.1:p.His536Gln
XM_006713873.1:c.1605C>G	XP_006713936.1:p.His535Gln
XM_011513420.1:c.1611C>G	XP_011511722.1:p.His537Gln
XM_011513422.1:c.1608C>G	XP_011511724.1:p.His536Gln
NM_001354809.1:c.1608C>G	NP_001341738.1:p.His536Gln
NM_001354810.1:c.1608C>G	NP_001341739.1:p.His536Gln
NR_148971.1:n.2012C>G
NM_001354809.2:c.1608C>G	NP_001341738.1:p.His536Gln
NM_001354810.2:c.1608C>G	NP_001341739.1:p.His536Gln
NR_148971.2:n.2031C>G
NM_000142.5:c.1605C>G MANE Select	NP_000133.1:p.His535Gln
NM_001163213.2:c.1611C>G	NP_001156685.1:p.His537Gln
NM_022965.4:c.1269C>G	NP_075254.1:p.His423Gln