Canonical Allele Identifier: CA2810197
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs1553846871
gnomAD v2: 4-1806010-C-CT
gnomAD v3: 4-1804283-C-CT
gnomAD v4: 4-1804283-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804283_1804284insT , CM000666.2:g.1804283_1804284insT GRCh38
NC_000004.11:g.1806010_1806011insT , CM000666.1:g.1806010_1806011insT GRCh37
NC_000004.10:g.1775808_1775809insT NCBI36
NG_012632.1:g.15972_15973insT , LRG_1021:g.15972_15973insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1082-47_1082-46insT ENSP00000339824.4:n.1082-47_1082-46insT
ENST00000260795.8:c.*132-47_*132-46insT ENSP00000260795.3:n.*132-47_*132-46insT
ENST00000352904.6:c.931-541_931-540insT ENSP00000231803.1:n.931-541_931-540insT
ENST00000412135.7:c.1064-47_1064-46insT ENSP00000412903.3:n.1064-47_1064-46insT
ENST00000440486.8:c.1076-47_1076-46insT MANE Select ENSP00000414914.2:n.1076-47_1076-46insT
ENST00000481110.7:c.1076-47_1076-46insT ENSP00000420533.2:n.1076-47_1076-46insT
ENST00000643463.1:n.227-47_227-46insT
ENST00000260795.6:c.1076-47_1076-46insT ENSP00000260795.2:n.1076-47_1076-46insT
ENST00000340107.8:c.1082-47_1082-46insT ENSP00000339824.4:n.1082-47_1082-46insT
ENST00000352904.5:c.931-541_931-540insT ENSP00000231803.1:n.931-541_931-540insT
ENST00000412135.6:c.931-541_931-540insT ENSP00000412903.2:n.931-541_931-540insT
ENST00000440486.6:c.1076-47_1076-46insT ENSP00000414914.2:n.1076-47_1076-46insT
ENST00000481110.6:c.1076-47_1076-46insT ENSP00000420533.2:n.1076-47_1076-46insT
ENST00000613647.4:c.*132-47_*132-46insT ENSP00000479472.1:n.*132-47_*132-46insT
NM_000142.4:c.1076-47_1076-46insT , LRG_1021t1:c.1076-47_1076-46insT NP_000133.1:n.1076-47_1076-46insT
NM_001163213.1:c.1082-47_1082-46insT , LRG_1021t2:c.1082-47_1082-46insT NP_001156685.1:n.1082-47_1082-46insT
NM_022965.3:c.931-541_931-540insT NP_075254.1:n.931-541_931-540insT
XM_006713868.1:c.1082-47_1082-46insT XP_006713931.1:n.1082-47_1082-46insT
XM_006713869.1:c.1082-47_1082-46insT XP_006713932.1:n.1082-47_1082-46insT
XM_006713870.1:c.1082-47_1082-46insT XP_006713933.1:n.1082-47_1082-46insT
XM_006713871.1:c.1082-47_1082-46insT XP_006713934.1:n.1082-47_1082-46insT
XM_006713872.1:c.1076-47_1076-46insT XP_006713935.1:n.1076-47_1076-46insT
XM_006713873.1:c.1076-47_1076-46insT XP_006713936.1:n.1076-47_1076-46insT
XM_011513420.1:c.1076-47_1076-46insT XP_011511722.1:n.1076-47_1076-46insT
XM_011513422.1:c.1076-47_1076-46insT XP_011511724.1:n.1076-47_1076-46insT
NM_001354809.1:c.1076-47_1076-46insT NP_001341738.1:n.1076-47_1076-46insT
NM_001354810.1:c.1076-47_1076-46insT NP_001341739.1:n.1076-47_1076-46insT
NR_148971.1:n.1483-47_1483-46insT
NM_001354809.2:c.1076-47_1076-46insT NP_001341738.1:n.1076-47_1076-46insT
NM_001354810.2:c.1076-47_1076-46insT NP_001341739.1:n.1076-47_1076-46insT
NR_148971.2:n.1502-47_1502-46insT
NM_000142.5:c.1076-47_1076-46insT MANE Select NP_000133.1:n.1076-47_1076-46insT
NM_001163213.2:c.1082-47_1082-46insT NP_001156685.1:n.1082-47_1082-46insT
NM_022965.4:c.931-541_931-540insT NP_075254.1:n.931-541_931-540insT