Canonical Allele Identifier: CA1058515131

Gene: FGFR3

Linked Data

• dbSNP Id: rs1721752717
• gnomAD v3: 4-1805344-T-TCATGGTC
• gnomAD v4: 4-1805344-T-TCATGGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805345_1805346insATGGTCC , CM000666.2:g.1805345_1805346insATGGTCC	GRCh38
NC_000004.11:g.1807072_1807073insATGGTCC , CM000666.1:g.1807072_1807073insATGGTCC	GRCh37
NC_000004.10:g.1776870_1776871insATGGTCC	NCBI36
NG_012632.1:g.17034_17035insATGGTCC , LRG_1021:g.17034_17035insATGGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1419-10_1419-9insATGGTCC	ENSP00000339824.4:n.1419-10_1419-9insATGGTCC
ENST00000260795.8:c.*469-10_*469-9insATGGTCC	ENSP00000260795.3:n.*469-10_*469-9insATGGTCC
ENST00000352904.6:c.1077-10_1077-9insATGGTCC	ENSP00000231803.1:n.1077-10_1077-9insATGGTCC
ENST00000412135.7:c.1401-10_1401-9insATGGTCC	ENSP00000412903.3:n.1401-10_1401-9insATGGTCC
ENST00000440486.8:c.1413-10_1413-9insATGGTCC MANE Select	ENSP00000414914.2:n.1413-10_1413-9insATGGTCC
ENST00000481110.7:c.1416-10_1416-9insATGGTCC	ENSP00000420533.2:n.1416-10_1416-9insATGGTCC
ENST00000260795.6:c.1413-10_1413-9insATGGTCC	ENSP00000260795.2:n.1413-10_1413-9insATGGTCC
ENST00000340107.8:c.1419-10_1419-9insATGGTCC	ENSP00000339824.4:n.1419-10_1419-9insATGGTCC
ENST00000352904.5:c.1077-10_1077-9insATGGTCC	ENSP00000231803.1:n.1077-10_1077-9insATGGTCC
ENST00000412135.6:c.1077-10_1077-9insATGGTCC	ENSP00000412903.2:n.1077-10_1077-9insATGGTCC
ENST00000440486.6:c.1413-10_1413-9insATGGTCC	ENSP00000414914.2:n.1413-10_1413-9insATGGTCC
ENST00000469068.1:n.479-10_479-9insATGGTCC
ENST00000481110.6:c.1416-10_1416-9insATGGTCC	ENSP00000420533.2:n.1416-10_1416-9insATGGTCC
ENST00000613647.4:c.*469-10_*469-9insATGGTCC	ENSP00000479472.1:n.*469-10_*469-9insATGGTCC
NM_000142.4:c.1413-10_1413-9insATGGTCC , LRG_1021t1:c.1413-10_1413-9insATGGTCC	NP_000133.1:n.1413-10_1413-9insATGGTCC
NM_001163213.1:c.1419-10_1419-9insATGGTCC , LRG_1021t2:c.1419-10_1419-9insATGGTCC	NP_001156685.1:n.1419-10_1419-9insATGGTCC
NM_022965.3:c.1077-10_1077-9insATGGTCC	NP_075254.1:n.1077-10_1077-9insATGGTCC
XM_006713868.1:c.1425-10_1425-9insATGGTCC	XP_006713931.1:n.1425-10_1425-9insATGGTCC
XM_006713869.1:c.1425-10_1425-9insATGGTCC	XP_006713932.1:n.1425-10_1425-9insATGGTCC
XM_006713870.1:c.1422-10_1422-9insATGGTCC	XP_006713933.1:n.1422-10_1422-9insATGGTCC
XM_006713871.1:c.1419-10_1419-9insATGGTCC	XP_006713934.1:n.1419-10_1419-9insATGGTCC
XM_006713872.1:c.1416-10_1416-9insATGGTCC	XP_006713935.1:n.1416-10_1416-9insATGGTCC
XM_006713873.1:c.1413-10_1413-9insATGGTCC	XP_006713936.1:n.1413-10_1413-9insATGGTCC
XM_011513420.1:c.1419-10_1419-9insATGGTCC	XP_011511722.1:n.1419-10_1419-9insATGGTCC
XM_011513422.1:c.1416-10_1416-9insATGGTCC	XP_011511724.1:n.1416-10_1416-9insATGGTCC
NM_001354809.1:c.1416-10_1416-9insATGGTCC	NP_001341738.1:n.1416-10_1416-9insATGGTCC
NM_001354810.1:c.1416-10_1416-9insATGGTCC	NP_001341739.1:n.1416-10_1416-9insATGGTCC
NR_148971.1:n.1820-10_1820-9insATGGTCC
NM_001354809.2:c.1416-10_1416-9insATGGTCC	NP_001341738.1:n.1416-10_1416-9insATGGTCC
NM_001354810.2:c.1416-10_1416-9insATGGTCC	NP_001341739.1:n.1416-10_1416-9insATGGTCC
NR_148971.2:n.1839-10_1839-9insATGGTCC
NM_000142.5:c.1413-10_1413-9insATGGTCC MANE Select	NP_000133.1:n.1413-10_1413-9insATGGTCC
NM_001163213.2:c.1419-10_1419-9insATGGTCC	NP_001156685.1:n.1419-10_1419-9insATGGTCC
NM_022965.4:c.1077-10_1077-9insATGGTCC	NP_075254.1:n.1077-10_1077-9insATGGTCC