Canonical Allele Identifier: CA1058514497
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs771000461
gnomAD v3: 4-1804289-G-GC
gnomAD v4: 4-1804289-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804289_1804290insC , CM000666.2:g.1804289_1804290insC GRCh38
NC_000004.11:g.1806016_1806017insC , CM000666.1:g.1806016_1806017insC GRCh37
NC_000004.10:g.1775814_1775815insC NCBI36
NG_012632.1:g.15978_15979insC , LRG_1021:g.15978_15979insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1082-41_1082-40insC ENSP00000339824.4:n.1082-41_1082-40insC
ENST00000260795.8:c.*132-41_*132-40insC ENSP00000260795.3:n.*132-41_*132-40insC
ENST00000352904.6:c.931-535_931-534insC ENSP00000231803.1:n.931-535_931-534insC
ENST00000412135.7:c.1064-41_1064-40insC ENSP00000412903.3:n.1064-41_1064-40insC
ENST00000440486.8:c.1076-41_1076-40insC MANE Select ENSP00000414914.2:n.1076-41_1076-40insC
ENST00000481110.7:c.1076-41_1076-40insC ENSP00000420533.2:n.1076-41_1076-40insC
ENST00000643463.1:n.227-41_227-40insC
ENST00000260795.6:c.1076-41_1076-40insC ENSP00000260795.2:n.1076-41_1076-40insC
ENST00000340107.8:c.1082-41_1082-40insC ENSP00000339824.4:n.1082-41_1082-40insC
ENST00000352904.5:c.931-535_931-534insC ENSP00000231803.1:n.931-535_931-534insC
ENST00000412135.6:c.931-535_931-534insC ENSP00000412903.2:n.931-535_931-534insC
ENST00000440486.6:c.1076-41_1076-40insC ENSP00000414914.2:n.1076-41_1076-40insC
ENST00000481110.6:c.1076-41_1076-40insC ENSP00000420533.2:n.1076-41_1076-40insC
ENST00000613647.4:c.*132-41_*132-40insC ENSP00000479472.1:n.*132-41_*132-40insC
NM_000142.4:c.1076-41_1076-40insC , LRG_1021t1:c.1076-41_1076-40insC NP_000133.1:n.1076-41_1076-40insC
NM_001163213.1:c.1082-41_1082-40insC , LRG_1021t2:c.1082-41_1082-40insC NP_001156685.1:n.1082-41_1082-40insC
NM_022965.3:c.931-535_931-534insC NP_075254.1:n.931-535_931-534insC
XM_006713868.1:c.1082-41_1082-40insC XP_006713931.1:n.1082-41_1082-40insC
XM_006713869.1:c.1082-41_1082-40insC XP_006713932.1:n.1082-41_1082-40insC
XM_006713870.1:c.1082-41_1082-40insC XP_006713933.1:n.1082-41_1082-40insC
XM_006713871.1:c.1082-41_1082-40insC XP_006713934.1:n.1082-41_1082-40insC
XM_006713872.1:c.1076-41_1076-40insC XP_006713935.1:n.1076-41_1076-40insC
XM_006713873.1:c.1076-41_1076-40insC XP_006713936.1:n.1076-41_1076-40insC
XM_011513420.1:c.1076-41_1076-40insC XP_011511722.1:n.1076-41_1076-40insC
XM_011513422.1:c.1076-41_1076-40insC XP_011511724.1:n.1076-41_1076-40insC
NM_001354809.1:c.1076-41_1076-40insC NP_001341738.1:n.1076-41_1076-40insC
NM_001354810.1:c.1076-41_1076-40insC NP_001341739.1:n.1076-41_1076-40insC
NR_148971.1:n.1483-41_1483-40insC
NM_001354809.2:c.1076-41_1076-40insC NP_001341738.1:n.1076-41_1076-40insC
NM_001354810.2:c.1076-41_1076-40insC NP_001341739.1:n.1076-41_1076-40insC
NR_148971.2:n.1502-41_1502-40insC
NM_000142.5:c.1076-41_1076-40insC MANE Select NP_000133.1:n.1076-41_1076-40insC
NM_001163213.2:c.1082-41_1082-40insC NP_001156685.1:n.1082-41_1082-40insC
NM_022965.4:c.931-535_931-534insC NP_075254.1:n.931-535_931-534insC