Canonical Allele Identifier: CA2573137472

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 1680062
• ClinVar RCV Id: RCV002236436
• dbSNP Id: rs2108797094

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804395_1804396delinsAA , CM000666.2:g.1804395_1804396delinsAA	GRCh38
NC_000004.11:g.1806122_1806123delinsAA , CM000666.1:g.1806122_1806123delinsAA	GRCh37
NC_000004.10:g.1775920_1775921delinsAA	NCBI36
NG_012632.1:g.16084_16085delinsAA , LRG_1021:g.16084_16085delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1147_1148delinsAA	ENSP00000339824.4:p.Val383Lys
ENST00000260795.8:c.*197_*198delinsAA	ENSP00000260795.3:n.*197_*198delinsAA
ENST00000352904.6:c.931-429_931-428delinsAA	ENSP00000231803.1:n.931-429_931-428delins...
ENST00000412135.7:c.1129_1130delinsAA	ENSP00000412903.3:p.Val377Lys
ENST00000440486.8:c.1141_1142delinsAA MANE Select	ENSP00000414914.2:p.Val381Lys
ENST00000481110.7:c.1141_1142delinsAA	ENSP00000420533.2:p.Val381Lys
ENST00000643463.1:n.292_293delinsAA
ENST00000260795.6:c.1141_1142delinsAA	ENSP00000260795.2:p.Val381Lys
ENST00000340107.8:c.1147_1148delinsAA	ENSP00000339824.4:p.Val383Lys
ENST00000352904.5:c.931-429_931-428delinsAA	ENSP00000231803.1:n.931-429_931-428delins...
ENST00000412135.6:c.931-429_931-428delinsAA	ENSP00000412903.2:n.931-429_931-428delins...
ENST00000440486.6:c.1141_1142delinsAA	ENSP00000414914.2:p.Val381Lys
ENST00000481110.6:c.1141_1142delinsAA	ENSP00000420533.2:p.Val381Lys
ENST00000613647.4:c.*197_*198delinsAA	ENSP00000479472.1:n.*197_*198delinsAA
NM_000142.4:c.1141_1142delinsAA , LRG_1021t1:c.1141_1142delinsAA	NP_000133.1:p.Val381Lys
NM_001163213.1:c.1147_1148delinsAA , LRG_1021t2:c.1147_1148delinsAA	NP_001156685.1:p.Val383Lys
NM_022965.3:c.931-429_931-428delinsAA	NP_075254.1:n.931-429_931-428delinsAA
XM_006713868.1:c.1147_1148delinsAA	XP_006713931.1:p.Val383Lys
XM_006713869.1:c.1147_1148delinsAA	XP_006713932.1:p.Val383Lys
XM_006713870.1:c.1147_1148delinsAA	XP_006713933.1:p.Val383Lys
XM_006713871.1:c.1147_1148delinsAA	XP_006713934.1:p.Val383Lys
XM_006713872.1:c.1141_1142delinsAA	XP_006713935.1:p.Val381Lys
XM_006713873.1:c.1141_1142delinsAA	XP_006713936.1:p.Val381Lys
XM_011513420.1:c.1141_1142delinsAA	XP_011511722.1:p.Val381Lys
XM_011513422.1:c.1141_1142delinsAA	XP_011511724.1:p.Val381Lys
NM_001354809.1:c.1141_1142delinsAA	NP_001341738.1:p.Val381Lys
NM_001354810.1:c.1141_1142delinsAA	NP_001341739.1:p.Val381Lys
NR_148971.1:n.1548_1549delinsAA
NM_001354809.2:c.1141_1142delinsAA	NP_001341738.1:p.Val381Lys
NM_001354810.2:c.1141_1142delinsAA	NP_001341739.1:p.Val381Lys
NR_148971.2:n.1567_1568delinsAA
NM_000142.5:c.1141_1142delinsAA MANE Select	NP_000133.1:p.Val381Lys
NM_001163213.2:c.1147_1148delinsAA	NP_001156685.1:p.Val383Lys
NM_022965.4:c.931-429_931-428delinsAA	NP_075254.1:n.931-429_931-428delinsAA