Canonical Allele Identifier: CA355981677

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 546957
• ClinVar RCV Id: RCV000658989
• dbSNP Id: rs1254322699
• gnomAD v3: 4-1805768-T-A
• gnomAD v4: 4-1805768-T-A
• MyVariant Identifiers: chr4:g.1807495T>A (hg19) ; chr4:g.1805768T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805768T>A , CM000666.2:g.1805768T>A	GRCh38
NC_000004.11:g.1807495T>A , CM000666.1:g.1807495T>A	GRCh37
NC_000004.10:g.1777293T>A	NCBI36
NG_012632.1:g.17457T>A , LRG_1021:g.17457T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1670T>A	ENSP00000339824.4:p.Val557Glu
ENST00000260795.8:c.*720T>A	ENSP00000260795.3:n.*720T>A
ENST00000352904.6:c.1328T>A	ENSP00000231803.1:p.Val443Glu
ENST00000412135.7:c.1652T>A	ENSP00000412903.3:p.Val551Glu
ENST00000440486.8:c.1664T>A MANE Select	ENSP00000414914.2:p.Val555Glu
ENST00000481110.7:c.1667T>A	ENSP00000420533.2:p.Val556Glu
ENST00000260795.6:c.1664T>A	ENSP00000260795.2:p.Val555Glu
ENST00000340107.8:c.1670T>A	ENSP00000339824.4:p.Val557Glu
ENST00000352904.5:c.1328T>A	ENSP00000231803.1:p.Val443Glu
ENST00000412135.6:c.1328T>A	ENSP00000412903.2:p.Val443Glu
ENST00000440486.6:c.1664T>A	ENSP00000414914.2:p.Val555Glu
ENST00000469068.1:n.730T>A
ENST00000481110.6:c.1667T>A	ENSP00000420533.2:p.Val556Glu
ENST00000613647.4:c.*720T>A	ENSP00000479472.1:n.*720T>A
NM_000142.4:c.1664T>A , LRG_1021t1:c.1664T>A	NP_000133.1:p.Val555Glu
NM_001163213.1:c.1670T>A , LRG_1021t2:c.1670T>A	NP_001156685.1:p.Val557Glu
NM_022965.3:c.1328T>A	NP_075254.1:p.Val443Glu
XM_006713868.1:c.1676T>A	XP_006713931.1:p.Val559Glu
XM_006713869.1:c.1676T>A	XP_006713932.1:p.Val559Glu
XM_006713870.1:c.1673T>A	XP_006713933.1:p.Val558Glu
XM_006713871.1:c.1670T>A	XP_006713934.1:p.Val557Glu
XM_006713872.1:c.1667T>A	XP_006713935.1:p.Val556Glu
XM_006713873.1:c.1664T>A	XP_006713936.1:p.Val555Glu
XM_011513420.1:c.1670T>A	XP_011511722.1:p.Val557Glu
XM_011513422.1:c.1667T>A	XP_011511724.1:p.Val556Glu
NM_001354809.1:c.1667T>A	NP_001341738.1:p.Val556Glu
NM_001354810.1:c.1667T>A	NP_001341739.1:p.Val556Glu
NR_148971.1:n.2071T>A
NM_001354809.2:c.1667T>A	NP_001341738.1:p.Val556Glu
NM_001354810.2:c.1667T>A	NP_001341739.1:p.Val556Glu
NR_148971.2:n.2090T>A
NM_000142.5:c.1664T>A MANE Select	NP_000133.1:p.Val555Glu
NM_001163213.2:c.1670T>A	NP_001156685.1:p.Val557Glu
NM_022965.4:c.1328T>A	NP_075254.1:p.Val443Glu