Canonical Allele Identifier: CA126384
Gene: FGFR3 HGNC NCBI

Linked Data

ClinVar Variation Id: 16354
dbSNP Id: rs121913112
gnomAD v2: 4-1807288-G-A
gnomAD v3: 4-1805561-G-A
gnomAD v4: 4-1805561-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805561G>A , CM000666.2:g.1805561G>A GRCh38
NC_000004.11:g.1807288G>A , CM000666.1:g.1807288G>A GRCh37
NC_000004.10:g.1777086G>A NCBI36
NG_012632.1:g.17250G>A , LRG_1021:g.17250G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.1543G>A ENSP00000339824.4:p.Asp515Asn
ENST00000260795.8:c.*593G>A ENSP00000260795.3:n.*593G>A
ENST00000352904.6:c.1201G>A ENSP00000231803.1:p.Asp401Asn
ENST00000412135.7:c.1525G>A ENSP00000412903.3:p.Asp509Asn
ENST00000440486.8:c.1537G>A MANE Select ENSP00000414914.2:p.Asp513Asn
ENST00000481110.7:c.1540G>A ENSP00000420533.2:p.Asp514Asn
ENST00000260795.6:c.1537G>A ENSP00000260795.2:p.Asp513Asn
ENST00000340107.8:c.1543G>A ENSP00000339824.4:p.Asp515Asn
ENST00000352904.5:c.1201G>A ENSP00000231803.1:p.Asp401Asn
ENST00000412135.6:c.1201G>A ENSP00000412903.2:p.Asp401Asn
ENST00000440486.6:c.1537G>A ENSP00000414914.2:p.Asp513Asn
ENST00000469068.1:n.603G>A
ENST00000481110.6:c.1540G>A ENSP00000420533.2:p.Asp514Asn
ENST00000613647.4:c.*593G>A ENSP00000479472.1:n.*593G>A
NM_000142.4:c.1537G>A , LRG_1021t1:c.1537G>A NP_000133.1:p.Asp513Asn
NM_001163213.1:c.1543G>A , LRG_1021t2:c.1543G>A NP_001156685.1:p.Asp515Asn
NM_022965.3:c.1201G>A NP_075254.1:p.Asp401Asn
XM_006713868.1:c.1549G>A XP_006713931.1:p.Asp517Asn
XM_006713869.1:c.1549G>A XP_006713932.1:p.Asp517Asn
XM_006713870.1:c.1546G>A XP_006713933.1:p.Asp516Asn
XM_006713871.1:c.1543G>A XP_006713934.1:p.Asp515Asn
XM_006713872.1:c.1540G>A XP_006713935.1:p.Asp514Asn
XM_006713873.1:c.1537G>A XP_006713936.1:p.Asp513Asn
XM_011513420.1:c.1543G>A XP_011511722.1:p.Asp515Asn
XM_011513422.1:c.1540G>A XP_011511724.1:p.Asp514Asn
NM_001354809.1:c.1540G>A NP_001341738.1:p.Asp514Asn
NM_001354810.1:c.1540G>A NP_001341739.1:p.Asp514Asn
NR_148971.1:n.1944G>A
NM_001354809.2:c.1540G>A NP_001341738.1:p.Asp514Asn
NM_001354810.2:c.1540G>A NP_001341739.1:p.Asp514Asn
NR_148971.2:n.1963G>A
NM_000142.5:c.1537G>A MANE Select NP_000133.1:p.Asp513Asn
NM_001163213.2:c.1543G>A NP_001156685.1:p.Asp515Asn
NM_022965.4:c.1201G>A NP_075254.1:p.Asp401Asn