Canonical Allele Identifier: CA438062878
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs754621427
MyVariant Identifiers: chr4:g.1806184C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804457C>T , CM000666.2:g.1804457C>T GRCh38
NC_000004.11:g.1806184C>T , CM000666.1:g.1806184C>T GRCh37
NC_000004.10:g.1775982C>T NCBI36
NG_012632.1:g.16146C>T , LRG_1021:g.16146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1209C>T ENSP00000339824.4:p.Pro403=
ENST00000260795.8:c.*259C>T ENSP00000260795.3:n.*259C>T
ENST00000352904.6:c.931-367C>T ENSP00000231803.1:n.931-367C>T
ENST00000412135.7:c.1191C>T ENSP00000412903.3:p.Pro397=
ENST00000440486.8:c.1203C>T MANE Select ENSP00000414914.2:p.Pro401=
ENST00000481110.7:c.1203C>T ENSP00000420533.2:p.Pro401=
ENST00000643463.1:n.354C>T
ENST00000260795.6:c.1203C>T ENSP00000260795.2:p.Pro401=
ENST00000340107.8:c.1209C>T ENSP00000339824.4:p.Pro403=
ENST00000352904.5:c.931-367C>T ENSP00000231803.1:n.931-367C>T
ENST00000412135.6:c.931-367C>T ENSP00000412903.2:n.931-367C>T
ENST00000440486.6:c.1203C>T ENSP00000414914.2:p.Pro401=
ENST00000481110.6:c.1203C>T ENSP00000420533.2:p.Pro401=
ENST00000613647.4:c.*259C>T ENSP00000479472.1:n.*259C>T
NM_000142.4:c.1203C>T , LRG_1021t1:c.1203C>T NP_000133.1:p.Pro401=
NM_001163213.1:c.1209C>T , LRG_1021t2:c.1209C>T NP_001156685.1:p.Pro403=
NM_022965.3:c.931-367C>T NP_075254.1:n.931-367C>T
XM_006713868.1:c.1209C>T XP_006713931.1:p.Pro403=
XM_006713869.1:c.1209C>T XP_006713932.1:p.Pro403=
XM_006713870.1:c.1209C>T XP_006713933.1:p.Pro403=
XM_006713871.1:c.1209C>T XP_006713934.1:p.Pro403=
XM_006713872.1:c.1203C>T XP_006713935.1:p.Pro401=
XM_006713873.1:c.1203C>T XP_006713936.1:p.Pro401=
XM_011513420.1:c.1203C>T XP_011511722.1:p.Pro401=
XM_011513422.1:c.1203C>T XP_011511724.1:p.Pro401=
NM_001354809.1:c.1203C>T NP_001341738.1:p.Pro401=
NM_001354810.1:c.1203C>T NP_001341739.1:p.Pro401=
NR_148971.1:n.1610C>T
NM_001354809.2:c.1203C>T NP_001341738.1:p.Pro401=
NM_001354810.2:c.1203C>T NP_001341739.1:p.Pro401=
NR_148971.2:n.1629C>T
NM_000142.5:c.1203C>T MANE Select NP_000133.1:p.Pro401=
NM_001163213.2:c.1209C>T NP_001156685.1:p.Pro403=
NM_022965.4:c.931-367C>T NP_075254.1:n.931-367C>T