Canonical Allele Identifier: CA355981591

Gene: FGFR3

Linked Data

• dbSNP Id: rs1721805221
• gnomAD v4: 4-1805649-T-G
• MyVariant Identifiers: chr4:g.1807376T>G (hg19) ; chr4:g.1805649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805649T>G , CM000666.2:g.1805649T>G	GRCh38
NC_000004.11:g.1807376T>G , CM000666.1:g.1807376T>G	GRCh37
NC_000004.10:g.1777174T>G	NCBI36
NG_012632.1:g.17338T>G , LRG_1021:g.17338T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1631T>G	ENSP00000339824.4:p.Leu544Arg
ENST00000260795.8:c.*681T>G	ENSP00000260795.3:n.*681T>G
ENST00000352904.6:c.1289T>G	ENSP00000231803.1:p.Leu430Arg
ENST00000412135.7:c.1613T>G	ENSP00000412903.3:p.Leu538Arg
ENST00000440486.8:c.1625T>G MANE Select	ENSP00000414914.2:p.Leu542Arg
ENST00000481110.7:c.1628T>G	ENSP00000420533.2:p.Leu543Arg
ENST00000260795.6:c.1625T>G	ENSP00000260795.2:p.Leu542Arg
ENST00000340107.8:c.1631T>G	ENSP00000339824.4:p.Leu544Arg
ENST00000352904.5:c.1289T>G	ENSP00000231803.1:p.Leu430Arg
ENST00000412135.6:c.1289T>G	ENSP00000412903.2:p.Leu430Arg
ENST00000440486.6:c.1625T>G	ENSP00000414914.2:p.Leu542Arg
ENST00000469068.1:n.691T>G
ENST00000481110.6:c.1628T>G	ENSP00000420533.2:p.Leu543Arg
ENST00000613647.4:c.*681T>G	ENSP00000479472.1:n.*681T>G
NM_000142.4:c.1625T>G , LRG_1021t1:c.1625T>G	NP_000133.1:p.Leu542Arg
NM_001163213.1:c.1631T>G , LRG_1021t2:c.1631T>G	NP_001156685.1:p.Leu544Arg
NM_022965.3:c.1289T>G	NP_075254.1:p.Leu430Arg
XM_006713868.1:c.1637T>G	XP_006713931.1:p.Leu546Arg
XM_006713869.1:c.1637T>G	XP_006713932.1:p.Leu546Arg
XM_006713870.1:c.1634T>G	XP_006713933.1:p.Leu545Arg
XM_006713871.1:c.1631T>G	XP_006713934.1:p.Leu544Arg
XM_006713872.1:c.1628T>G	XP_006713935.1:p.Leu543Arg
XM_006713873.1:c.1625T>G	XP_006713936.1:p.Leu542Arg
XM_011513420.1:c.1631T>G	XP_011511722.1:p.Leu544Arg
XM_011513422.1:c.1628T>G	XP_011511724.1:p.Leu543Arg
NM_001354809.1:c.1628T>G	NP_001341738.1:p.Leu543Arg
NM_001354810.1:c.1628T>G	NP_001341739.1:p.Leu543Arg
NR_148971.1:n.2032T>G
NM_001354809.2:c.1628T>G	NP_001341738.1:p.Leu543Arg
NM_001354810.2:c.1628T>G	NP_001341739.1:p.Leu543Arg
NR_148971.2:n.2051T>G
NM_000142.5:c.1625T>G MANE Select	NP_000133.1:p.Leu542Arg
NM_001163213.2:c.1631T>G	NP_001156685.1:p.Leu544Arg
NM_022965.4:c.1289T>G	NP_075254.1:p.Leu430Arg