Canonical Allele Identifier: CA2810429
Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1974091
ClinVar RCV Id: RCV002765466
dbSNP Id: rs374221323
gnomAD v2: 4-1807217-G-C
gnomAD v3: 4-1805490-G-C
gnomAD v4: 4-1805490-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805490G>C , CM000666.2:g.1805490G>C GRCh38
NC_000004.11:g.1807217G>C , CM000666.1:g.1807217G>C GRCh37
NC_000004.10:g.1777015G>C NCBI36
NG_012632.1:g.17179G>C , LRG_1021:g.17179G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1540+14G>C ENSP00000339824.4:n.1540+14G>C
ENST00000260795.8:c.*590+14G>C ENSP00000260795.3:n.*590+14G>C
ENST00000352904.6:c.1198+14G>C ENSP00000231803.1:n.1198+14G>C
ENST00000412135.7:c.1522+14G>C ENSP00000412903.3:n.1522+14G>C
ENST00000440486.8:c.1534+14G>C MANE Select ENSP00000414914.2:n.1534+14G>C
ENST00000481110.7:c.1537+14G>C ENSP00000420533.2:n.1537+14G>C
ENST00000260795.6:c.1534+14G>C ENSP00000260795.2:n.1534+14G>C
ENST00000340107.8:c.1540+14G>C ENSP00000339824.4:n.1540+14G>C
ENST00000352904.5:c.1198+14G>C ENSP00000231803.1:n.1198+14G>C
ENST00000412135.6:c.1198+14G>C ENSP00000412903.2:n.1198+14G>C
ENST00000440486.6:c.1534+14G>C ENSP00000414914.2:n.1534+14G>C
ENST00000469068.1:n.600+14G>C
ENST00000481110.6:c.1537+14G>C ENSP00000420533.2:n.1537+14G>C
ENST00000613647.4:c.*590+14G>C ENSP00000479472.1:n.*590+14G>C
NM_000142.4:c.1534+14G>C , LRG_1021t1:c.1534+14G>C NP_000133.1:n.1534+14G>C
NM_001163213.1:c.1540+14G>C , LRG_1021t2:c.1540+14G>C NP_001156685.1:n.1540+14G>C
NM_022965.3:c.1198+14G>C NP_075254.1:n.1198+14G>C
XM_006713868.1:c.1546+14G>C XP_006713931.1:n.1546+14G>C
XM_006713869.1:c.1546+14G>C XP_006713932.1:n.1546+14G>C
XM_006713870.1:c.1543+14G>C XP_006713933.1:n.1543+14G>C
XM_006713871.1:c.1540+14G>C XP_006713934.1:n.1540+14G>C
XM_006713872.1:c.1537+14G>C XP_006713935.1:n.1537+14G>C
XM_006713873.1:c.1534+14G>C XP_006713936.1:n.1534+14G>C
XM_011513420.1:c.1540+14G>C XP_011511722.1:n.1540+14G>C
XM_011513422.1:c.1537+14G>C XP_011511724.1:n.1537+14G>C
NM_001354809.1:c.1537+14G>C NP_001341738.1:n.1537+14G>C
NM_001354810.1:c.1537+14G>C NP_001341739.1:n.1537+14G>C
NR_148971.1:n.1941+14G>C
NM_001354809.2:c.1537+14G>C NP_001341738.1:n.1537+14G>C
NM_001354810.2:c.1537+14G>C NP_001341739.1:n.1537+14G>C
NR_148971.2:n.1960+14G>C
NM_000142.5:c.1534+14G>C MANE Select NP_000133.1:n.1534+14G>C
NM_001163213.2:c.1540+14G>C NP_001156685.1:n.1540+14G>C
NM_022965.4:c.1198+14G>C NP_075254.1:n.1198+14G>C