Canonical Allele Identifier: CA549175823
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs1306848264
gnomAD v2: 4-1806022-G-GC
gnomAD v4: 4-1804295-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804295_1804296insC , CM000666.2:g.1804295_1804296insC GRCh38
NC_000004.11:g.1806022_1806023insC , CM000666.1:g.1806022_1806023insC GRCh37
NC_000004.10:g.1775820_1775821insC NCBI36
NG_012632.1:g.15984_15985insC , LRG_1021:g.15984_15985insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1082-35_1082-34insC ENSP00000339824.4:n.1082-35_1082-34insC
ENST00000260795.8:c.*132-35_*132-34insC ENSP00000260795.3:n.*132-35_*132-34insC
ENST00000352904.6:c.931-529_931-528insC ENSP00000231803.1:n.931-529_931-528insC
ENST00000412135.7:c.1064-35_1064-34insC ENSP00000412903.3:n.1064-35_1064-34insC
ENST00000440486.8:c.1076-35_1076-34insC MANE Select ENSP00000414914.2:n.1076-35_1076-34insC
ENST00000481110.7:c.1076-35_1076-34insC ENSP00000420533.2:n.1076-35_1076-34insC
ENST00000643463.1:n.227-35_227-34insC
ENST00000260795.6:c.1076-35_1076-34insC ENSP00000260795.2:n.1076-35_1076-34insC
ENST00000340107.8:c.1082-35_1082-34insC ENSP00000339824.4:n.1082-35_1082-34insC
ENST00000352904.5:c.931-529_931-528insC ENSP00000231803.1:n.931-529_931-528insC
ENST00000412135.6:c.931-529_931-528insC ENSP00000412903.2:n.931-529_931-528insC
ENST00000440486.6:c.1076-35_1076-34insC ENSP00000414914.2:n.1076-35_1076-34insC
ENST00000481110.6:c.1076-35_1076-34insC ENSP00000420533.2:n.1076-35_1076-34insC
ENST00000613647.4:c.*132-35_*132-34insC ENSP00000479472.1:n.*132-35_*132-34insC
NM_000142.4:c.1076-35_1076-34insC , LRG_1021t1:c.1076-35_1076-34insC NP_000133.1:n.1076-35_1076-34insC
NM_001163213.1:c.1082-35_1082-34insC , LRG_1021t2:c.1082-35_1082-34insC NP_001156685.1:n.1082-35_1082-34insC
NM_022965.3:c.931-529_931-528insC NP_075254.1:n.931-529_931-528insC
XM_006713868.1:c.1082-35_1082-34insC XP_006713931.1:n.1082-35_1082-34insC
XM_006713869.1:c.1082-35_1082-34insC XP_006713932.1:n.1082-35_1082-34insC
XM_006713870.1:c.1082-35_1082-34insC XP_006713933.1:n.1082-35_1082-34insC
XM_006713871.1:c.1082-35_1082-34insC XP_006713934.1:n.1082-35_1082-34insC
XM_006713872.1:c.1076-35_1076-34insC XP_006713935.1:n.1076-35_1076-34insC
XM_006713873.1:c.1076-35_1076-34insC XP_006713936.1:n.1076-35_1076-34insC
XM_011513420.1:c.1076-35_1076-34insC XP_011511722.1:n.1076-35_1076-34insC
XM_011513422.1:c.1076-35_1076-34insC XP_011511724.1:n.1076-35_1076-34insC
NM_001354809.1:c.1076-35_1076-34insC NP_001341738.1:n.1076-35_1076-34insC
NM_001354810.1:c.1076-35_1076-34insC NP_001341739.1:n.1076-35_1076-34insC
NR_148971.1:n.1483-35_1483-34insC
NM_001354809.2:c.1076-35_1076-34insC NP_001341738.1:n.1076-35_1076-34insC
NM_001354810.2:c.1076-35_1076-34insC NP_001341739.1:n.1076-35_1076-34insC
NR_148971.2:n.1502-35_1502-34insC
NM_000142.5:c.1076-35_1076-34insC MANE Select NP_000133.1:n.1076-35_1076-34insC
NM_001163213.2:c.1082-35_1082-34insC NP_001156685.1:n.1082-35_1082-34insC
NM_022965.4:c.931-529_931-528insC NP_075254.1:n.931-529_931-528insC