Canonical Allele Identifier: CA159731

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 134411
• ClinVar RCV Id: RCV000121086 ; RCV002514639 ; RCV003556168
• dbSNP Id: rs587778359
• ExAC: 4:1807155 A / G
• gnomAD v2: 4-1807155-A-G
• gnomAD v3: 4-1805428-A-G
• gnomAD v4: 4-1805428-A-G
• MyVariant Identifiers: chr4:g.1807155A>G (hg19) ; chr4:g.1805428A>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805428A>G , CM000666.2:g.1805428A>G	GRCh38
NC_000004.11:g.1807155A>G , CM000666.1:g.1807155A>G	GRCh37
NC_000004.10:g.1776953A>G	NCBI36
NG_012632.1:g.17117A>G , LRG_1021:g.17117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1492A>G	ENSP00000339824.4:p.Lys498Glu
ENST00000260795.8:c.*542A>G	ENSP00000260795.3:n.*542A>G
ENST00000352904.6:c.1150A>G	ENSP00000231803.1:p.Lys384Glu
ENST00000412135.7:c.1474A>G	ENSP00000412903.3:p.Lys492Glu
ENST00000440486.8:c.1486A>G MANE Select	ENSP00000414914.2:p.Lys496Glu
ENST00000481110.7:c.1489A>G	ENSP00000420533.2:p.Lys497Glu
ENST00000260795.6:c.1486A>G	ENSP00000260795.2:p.Lys496Glu
ENST00000340107.8:c.1492A>G	ENSP00000339824.4:p.Lys498Glu
ENST00000352904.5:c.1150A>G	ENSP00000231803.1:p.Lys384Glu
ENST00000412135.6:c.1150A>G	ENSP00000412903.2:p.Lys384Glu
ENST00000440486.6:c.1486A>G	ENSP00000414914.2:p.Lys496Glu
ENST00000469068.1:n.552A>G
ENST00000481110.6:c.1489A>G	ENSP00000420533.2:p.Lys497Glu
ENST00000613647.4:c.*542A>G	ENSP00000479472.1:n.*542A>G
NM_000142.4:c.1486A>G , LRG_1021t1:c.1486A>G	NP_000133.1:p.Lys496Glu
NM_001163213.1:c.1492A>G , LRG_1021t2:c.1492A>G	NP_001156685.1:p.Lys498Glu
NM_022965.3:c.1150A>G	NP_075254.1:p.Lys384Glu
XM_006713868.1:c.1498A>G	XP_006713931.1:p.Lys500Glu
XM_006713869.1:c.1498A>G	XP_006713932.1:p.Lys500Glu
XM_006713870.1:c.1495A>G	XP_006713933.1:p.Lys499Glu
XM_006713871.1:c.1492A>G	XP_006713934.1:p.Lys498Glu
XM_006713872.1:c.1489A>G	XP_006713935.1:p.Lys497Glu
XM_006713873.1:c.1486A>G	XP_006713936.1:p.Lys496Glu
XM_011513420.1:c.1492A>G	XP_011511722.1:p.Lys498Glu
XM_011513422.1:c.1489A>G	XP_011511724.1:p.Lys497Glu
NM_001354809.1:c.1489A>G	NP_001341738.1:p.Lys497Glu
NM_001354810.1:c.1489A>G	NP_001341739.1:p.Lys497Glu
NR_148971.1:n.1893A>G
NM_001354809.2:c.1489A>G	NP_001341738.1:p.Lys497Glu
NM_001354810.2:c.1489A>G	NP_001341739.1:p.Lys497Glu
NR_148971.2:n.1912A>G
NM_000142.5:c.1486A>G MANE Select	NP_000133.1:p.Lys496Glu
NM_001163213.2:c.1492A>G	NP_001156685.1:p.Lys498Glu
NM_022965.4:c.1150A>G	NP_075254.1:p.Lys384Glu