Canonical Allele Identifier: CA438063150
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs369137031
MyVariant Identifiers: chr4:g.1807819C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1806092C>A , CM000666.2:g.1806092C>A GRCh38
NC_000004.11:g.1807819C>A , CM000666.1:g.1807819C>A GRCh37
NC_000004.10:g.1777617C>A NCBI36
NG_012632.1:g.17781C>A , LRG_1021:g.17781C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1884C>A ENSP00000339824.4:p.Thr628=
ENST00000260795.8:c.*934C>A ENSP00000260795.3:n.*934C>A
ENST00000352904.6:c.1542C>A ENSP00000231803.1:p.Thr514=
ENST00000412135.7:c.1866C>A ENSP00000412903.3:p.Thr622=
ENST00000440486.8:c.1878C>A MANE Select ENSP00000414914.2:p.Thr626=
ENST00000481110.7:c.1881C>A ENSP00000420533.2:p.Thr627=
ENST00000260795.6:c.1878C>A ENSP00000260795.2:p.Thr626=
ENST00000340107.8:c.1884C>A ENSP00000339824.4:p.Thr628=
ENST00000352904.5:c.1542C>A ENSP00000231803.1:p.Thr514=
ENST00000412135.6:c.1542C>A ENSP00000412903.2:p.Thr514=
ENST00000440486.6:c.1878C>A ENSP00000414914.2:p.Thr626=
ENST00000481110.6:c.1881C>A ENSP00000420533.2:p.Thr627=
ENST00000613647.4:c.*934C>A ENSP00000479472.1:n.*934C>A
NM_000142.4:c.1878C>A , LRG_1021t1:c.1878C>A NP_000133.1:p.Thr626=
NM_001163213.1:c.1884C>A , LRG_1021t2:c.1884C>A NP_001156685.1:p.Thr628=
NM_022965.3:c.1542C>A NP_075254.1:p.Thr514=
XM_006713868.1:c.1890C>A XP_006713931.1:p.Thr630=
XM_006713869.1:c.1890C>A XP_006713932.1:p.Thr630=
XM_006713870.1:c.1887C>A XP_006713933.1:p.Thr629=
XM_006713871.1:c.1884C>A XP_006713934.1:p.Thr628=
XM_006713872.1:c.1881C>A XP_006713935.1:p.Thr627=
XM_006713873.1:c.1878C>A XP_006713936.1:p.Thr626=
XM_011513420.1:c.1884C>A XP_011511722.1:p.Thr628=
XM_011513422.1:c.1881C>A XP_011511724.1:p.Thr627=
NM_001354809.1:c.1881C>A NP_001341738.1:p.Thr627=
NM_001354810.1:c.1881C>A NP_001341739.1:p.Thr627=
NR_148971.1:n.2285C>A
NM_001354809.2:c.1881C>A NP_001341738.1:p.Thr627=
NM_001354810.2:c.1881C>A NP_001341739.1:p.Thr627=
NR_148971.2:n.2304C>A
NM_000142.5:c.1878C>A MANE Select NP_000133.1:p.Thr626=
NM_001163213.2:c.1884C>A NP_001156685.1:p.Thr628=
NM_022965.4:c.1542C>A NP_075254.1:p.Thr514=