Canonical Allele Identifier: CA355981442

Gene: FGFR3

Linked Data

• dbSNP Id: rs587778356
• gnomAD v4: 4-1805583-C-G
• MyVariant Identifiers: chr4:g.1807310C>G (hg19) ; chr4:g.1805583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805583C>G , CM000666.2:g.1805583C>G	GRCh38
NC_000004.11:g.1807310C>G , CM000666.1:g.1807310C>G	GRCh37
NC_000004.10:g.1777108C>G	NCBI36
NG_012632.1:g.17272C>G , LRG_1021:g.17272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1565C>G	ENSP00000339824.4:p.Ser522Trp
ENST00000260795.8:c.*615C>G	ENSP00000260795.3:n.*615C>G
ENST00000352904.6:c.1223C>G	ENSP00000231803.1:p.Ser408Trp
ENST00000412135.7:c.1547C>G	ENSP00000412903.3:p.Ser516Trp
ENST00000440486.8:c.1559C>G MANE Select	ENSP00000414914.2:p.Ser520Trp
ENST00000481110.7:c.1562C>G	ENSP00000420533.2:p.Ser521Trp
ENST00000260795.6:c.1559C>G	ENSP00000260795.2:p.Ser520Trp
ENST00000340107.8:c.1565C>G	ENSP00000339824.4:p.Ser522Trp
ENST00000352904.5:c.1223C>G	ENSP00000231803.1:p.Ser408Trp
ENST00000412135.6:c.1223C>G	ENSP00000412903.2:p.Ser408Trp
ENST00000440486.6:c.1559C>G	ENSP00000414914.2:p.Ser520Trp
ENST00000469068.1:n.625C>G
ENST00000481110.6:c.1562C>G	ENSP00000420533.2:p.Ser521Trp
ENST00000613647.4:c.*615C>G	ENSP00000479472.1:n.*615C>G
NM_000142.4:c.1559C>G , LRG_1021t1:c.1559C>G	NP_000133.1:p.Ser520Trp
NM_001163213.1:c.1565C>G , LRG_1021t2:c.1565C>G	NP_001156685.1:p.Ser522Trp
NM_022965.3:c.1223C>G	NP_075254.1:p.Ser408Trp
XM_006713868.1:c.1571C>G	XP_006713931.1:p.Ser524Trp
XM_006713869.1:c.1571C>G	XP_006713932.1:p.Ser524Trp
XM_006713870.1:c.1568C>G	XP_006713933.1:p.Ser523Trp
XM_006713871.1:c.1565C>G	XP_006713934.1:p.Ser522Trp
XM_006713872.1:c.1562C>G	XP_006713935.1:p.Ser521Trp
XM_006713873.1:c.1559C>G	XP_006713936.1:p.Ser520Trp
XM_011513420.1:c.1565C>G	XP_011511722.1:p.Ser522Trp
XM_011513422.1:c.1562C>G	XP_011511724.1:p.Ser521Trp
NM_001354809.1:c.1562C>G	NP_001341738.1:p.Ser521Trp
NM_001354810.1:c.1562C>G	NP_001341739.1:p.Ser521Trp
NR_148971.1:n.1966C>G
NM_001354809.2:c.1562C>G	NP_001341738.1:p.Ser521Trp
NM_001354810.2:c.1562C>G	NP_001341739.1:p.Ser521Trp
NR_148971.2:n.1985C>G
NM_000142.5:c.1559C>G MANE Select	NP_000133.1:p.Ser520Trp
NM_001163213.2:c.1565C>G	NP_001156685.1:p.Ser522Trp
NM_022965.4:c.1223C>G	NP_075254.1:p.Ser408Trp