Canonical Allele Identifier: CA2810129

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 1301520
• ClinVar RCV Id: RCV001733509
• dbSNP Id: rs761527653
• ExAC: 4:1805420 C / T
• gnomAD v2: 4-1805420-C-T
• gnomAD v3: 4-1803693-C-T
• gnomAD v4: 4-1803693-C-T
• MyVariant Identifiers: chr4:g.1805420C>T (hg19) ; chr4:g.1803693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1803693C>T , CM000666.2:g.1803693C>T	GRCh38
NC_000004.11:g.1805420C>T , CM000666.1:g.1805420C>T	GRCh37
NC_000004.10:g.1775218C>T	NCBI36
NG_012632.1:g.15382C>T , LRG_1021:g.15382C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1081+629C>T	ENSP00000339824.4:n.1081+629C>T
ENST00000260795.8:c.1083C>T	ENSP00000260795.3:p.Asp361=
ENST00000352904.6:c.931-1131C>T	ENSP00000231803.1:n.931-1131C>T
ENST00000412135.7:c.920C>T	ENSP00000412903.3:p.Thr307Met
ENST00000440486.8:c.932C>T MANE Select	ENSP00000414914.2:p.Thr311Met
ENST00000481110.7:c.932C>T	ENSP00000420533.2:p.Thr311Met
ENST00000643463.1:n.226+629C>T
ENST00000260795.6:c.932C>T	ENSP00000260795.2:p.Thr311Met
ENST00000340107.8:c.1081+629C>T	ENSP00000339824.4:n.1081+629C>T
ENST00000352904.5:c.931-1131C>T	ENSP00000231803.1:n.931-1131C>T
ENST00000412135.6:c.931-1131C>T	ENSP00000412903.2:n.931-1131C>T
ENST00000440486.6:c.932C>T	ENSP00000414914.2:p.Thr311Met
ENST00000481110.6:c.932C>T	ENSP00000420533.2:p.Thr311Met
ENST00000507588.1:c.290C>T	ENSP00000427289.1:p.Thr97Met
ENST00000613647.4:c.1083C>T	ENSP00000479472.1:p.Asp361=
NM_000142.4:c.932C>T , LRG_1021t1:c.932C>T	NP_000133.1:p.Thr311Met
NM_001163213.1:c.1081+629C>T , LRG_1021t2:c.1081+629C>T	NP_001156685.1:n.1081+629C>T
NM_022965.3:c.931-1131C>T	NP_075254.1:n.931-1131C>T
XM_006713868.1:c.1081+629C>T	XP_006713931.1:n.1081+629C>T
XM_006713869.1:c.1081+629C>T	XP_006713932.1:n.1081+629C>T
XM_006713870.1:c.1081+629C>T	XP_006713933.1:n.1081+629C>T
XM_006713871.1:c.1081+629C>T	XP_006713934.1:n.1081+629C>T
XM_006713872.1:c.932C>T	XP_006713935.1:p.Thr311Met
XM_006713873.1:c.932C>T	XP_006713936.1:p.Thr311Met
XM_011513420.1:c.932C>T	XP_011511722.1:p.Thr311Met
XM_011513422.1:c.932C>T	XP_011511724.1:p.Thr311Met
NM_001354809.1:c.932C>T	NP_001341738.1:p.Thr311Met
NM_001354810.1:c.932C>T	NP_001341739.1:p.Thr311Met
NR_148971.1:n.1339C>T
NM_001354809.2:c.932C>T	NP_001341738.1:p.Thr311Met
NM_001354810.2:c.932C>T	NP_001341739.1:p.Thr311Met
NR_148971.2:n.1358C>T
NM_000142.5:c.932C>T MANE Select	NP_000133.1:p.Thr311Met
NM_001163213.2:c.1081+629C>T	NP_001156685.1:n.1081+629C>T
NM_022965.4:c.931-1131C>T	NP_075254.1:n.931-1131C>T