Canonical Allele Identifier: CA2809821
Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 255341
dbSNP Id: rs3135868
gnomAD v2: 4-1801542-A-G
gnomAD v3: 4-1799815-A-G
gnomAD v4: 4-1799815-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1799815A>G , CM000666.2:g.1799815A>G GRCh38
NC_000004.11:g.1801542A>G , CM000666.1:g.1801542A>G GRCh37
NC_000004.10:g.1771340A>G NCBI36
NG_012632.1:g.11504A>G , LRG_1021:g.11504A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.445+3A>G ENSP00000339824.4:n.445+3A>G
ENST00000260795.8:c.445+3A>G ENSP00000260795.3:n.445+3A>G
ENST00000352904.6:c.445+3A>G ENSP00000231803.1:n.445+3A>G
ENST00000412135.7:c.433+15A>G ENSP00000412903.3:n.433+15A>G
ENST00000440486.8:c.445+3A>G MANE Select ENSP00000414914.2:n.445+3A>G
ENST00000481110.7:c.445+3A>G ENSP00000420533.2:n.445+3A>G
ENST00000260795.6:c.445+3A>G ENSP00000260795.2:n.445+3A>G
ENST00000340107.8:c.445+3A>G ENSP00000339824.4:n.445+3A>G
ENST00000352904.5:c.445+3A>G ENSP00000231803.1:n.445+3A>G
ENST00000412135.6:c.445+3A>G ENSP00000412903.2:n.445+3A>G
ENST00000440486.6:c.445+3A>G ENSP00000414914.2:n.445+3A>G
ENST00000481110.6:c.445+3A>G ENSP00000420533.2:n.445+3A>G
ENST00000613647.4:c.445+3A>G ENSP00000479472.1:n.445+3A>G
NM_000142.4:c.445+3A>G , LRG_1021t1:c.445+3A>G NP_000133.1:n.445+3A>G
NM_001163213.1:c.445+3A>G , LRG_1021t2:c.445+3A>G NP_001156685.1:n.445+3A>G
NM_022965.3:c.445+3A>G NP_075254.1:n.445+3A>G
XM_006713868.1:c.445+3A>G XP_006713931.1:n.445+3A>G
XM_006713869.1:c.445+3A>G XP_006713932.1:n.445+3A>G
XM_006713870.1:c.445+3A>G XP_006713933.1:n.445+3A>G
XM_006713871.1:c.445+3A>G XP_006713934.1:n.445+3A>G
XM_006713872.1:c.445+3A>G XP_006713935.1:n.445+3A>G
XM_006713873.1:c.445+3A>G XP_006713936.1:n.445+3A>G
XM_011513420.1:c.445+3A>G XP_011511722.1:n.445+3A>G
XM_011513422.1:c.445+3A>G XP_011511724.1:n.445+3A>G
NM_001354809.1:c.445+3A>G NP_001341738.1:n.445+3A>G
NM_001354810.1:c.445+3A>G NP_001341739.1:n.445+3A>G
NR_148971.1:n.701+3A>G
NM_001354809.2:c.445+3A>G NP_001341738.1:n.445+3A>G
NM_001354810.2:c.445+3A>G NP_001341739.1:n.445+3A>G
NR_148971.2:n.720+3A>G
NM_000142.5:c.445+3A>G MANE Select NP_000133.1:n.445+3A>G
NM_001163213.2:c.445+3A>G NP_001156685.1:n.445+3A>G
NM_022965.4:c.445+3A>G NP_075254.1:n.445+3A>G