Canonical Allele Identifier: CA2810177

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 1680054
• ClinVar RCV Id: RCV002237251
• dbSNP Id: rs759782828
• ExAC: 4:1805573 T / TCTGCTG
• gnomAD v2: 4-1805573-T-TCTGCTG
• gnomAD v3: 4-1803846-T-TCTGCTG
• gnomAD v4: 4-1803846-T-TCTGCTG
• MyVariant Identifiers: chr4:g.1805576_1805577insCTGCTG (hg19) ; chr4:g.1805573_1805574insCTGCTG (hg19) ; chr4:g.1803849_1803850insCTGCTG (hg38) ; chr4:g.1803846_1803847insCTGCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1803858_1803863dup , CM000666.2:g.1803858_1803863dup	GRCh38
NC_000004.11:g.1805585_1805590dup , CM000666.1:g.1805585_1805590dup	GRCh37
NC_000004.10:g.1775383_1775388dup	NCBI36
NG_012632.1:g.15547_15552dup , LRG_1021:g.15547_15552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1082-472_1082-467dup	ENSP00000339824.4:n.1082-472_1082-467dup
ENST00000260795.8:c.*131+22_*131+27dup	ENSP00000260795.3:n.*131+22_*131+27dup
ENST00000352904.6:c.931-966_931-961dup	ENSP00000231803.1:n.931-966_931-961dup
ENST00000412135.7:c.1063+22_1063+27dup	ENSP00000412903.3:n.1063+22_1063+27dup
ENST00000440486.8:c.1075+22_1075+27dup MANE Select	ENSP00000414914.2:n.1075+22_1075+27dup
ENST00000481110.7:c.1075+22_1075+27dup	ENSP00000420533.2:n.1075+22_1075+27dup
ENST00000643463.1:n.227-472_227-467dup
ENST00000260795.6:c.1075+22_1075+27dup	ENSP00000260795.2:n.1075+22_1075+27dup
ENST00000340107.8:c.1082-472_1082-467dup	ENSP00000339824.4:n.1082-472_1082-467dup
ENST00000352904.5:c.931-966_931-961dup	ENSP00000231803.1:n.931-966_931-961dup
ENST00000412135.6:c.931-966_931-961dup	ENSP00000412903.2:n.931-966_931-961dup
ENST00000440486.6:c.1075+22_1075+27dup	ENSP00000414914.2:n.1075+22_1075+27dup
ENST00000481110.6:c.1075+22_1075+27dup	ENSP00000420533.2:n.1075+22_1075+27dup
ENST00000613647.4:c.*131+22_*131+27dup	ENSP00000479472.1:n.*131+22_*131+27dup
NM_000142.4:c.1075+22_1075+27dup , LRG_1021t1:c.1075+22_1075+27dup	NP_000133.1:n.1075+22_1075+27dup
NM_001163213.1:c.1082-472_1082-467dup , LRG_1021t2:c.1082-472_1082-467dup	NP_001156685.1:n.1082-472_1082-467dup
NM_022965.3:c.931-966_931-961dup	NP_075254.1:n.931-966_931-961dup
XM_006713868.1:c.1082-472_1082-467dup	XP_006713931.1:n.1082-472_1082-467dup
XM_006713869.1:c.1082-472_1082-467dup	XP_006713932.1:n.1082-472_1082-467dup
XM_006713870.1:c.1082-472_1082-467dup	XP_006713933.1:n.1082-472_1082-467dup
XM_006713871.1:c.1082-472_1082-467dup	XP_006713934.1:n.1082-472_1082-467dup
XM_006713872.1:c.1075+22_1075+27dup	XP_006713935.1:n.1075+22_1075+27dup
XM_006713873.1:c.1075+22_1075+27dup	XP_006713936.1:n.1075+22_1075+27dup
XM_011513420.1:c.1075+22_1075+27dup	XP_011511722.1:n.1075+22_1075+27dup
XM_011513422.1:c.1075+22_1075+27dup	XP_011511724.1:n.1075+22_1075+27dup
NM_001354809.1:c.1075+22_1075+27dup	NP_001341738.1:n.1075+22_1075+27dup
NM_001354810.1:c.1075+22_1075+27dup	NP_001341739.1:n.1075+22_1075+27dup
NR_148971.1:n.1482+22_1482+27dup
NM_001354809.2:c.1075+22_1075+27dup	NP_001341738.1:n.1075+22_1075+27dup
NM_001354810.2:c.1075+22_1075+27dup	NP_001341739.1:n.1075+22_1075+27dup
NR_148971.2:n.1501+22_1501+27dup
NM_000142.5:c.1075+22_1075+27dup MANE Select	NP_000133.1:n.1075+22_1075+27dup
NM_001163213.2:c.1082-472_1082-467dup	NP_001156685.1:n.1082-472_1082-467dup
NM_022965.4:c.931-966_931-961dup	NP_075254.1:n.931-966_931-961dup