Canonical Allele Identifier: CA355981675

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 988310
• ClinVar RCV Id: RCV001269575
• dbSNP Id: rs1474187970
• gnomAD v4: 4-1805767-G-C
• MyVariant Identifiers: chr4:g.1807494G>C (hg19) ; chr4:g.1805767G>C (hg38)
• CIViC: CA355981675

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805767G>C , CM000666.2:g.1805767G>C	GRCh38
NC_000004.11:g.1807494G>C , CM000666.1:g.1807494G>C	GRCh37
NC_000004.10:g.1777292G>C	NCBI36
NG_012632.1:g.17456G>C , LRG_1021:g.17456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1669G>C	ENSP00000339824.4:p.Val557Leu
ENST00000260795.8:c.*719G>C	ENSP00000260795.3:n.*719G>C
ENST00000352904.6:c.1327G>C	ENSP00000231803.1:p.Val443Leu
ENST00000412135.7:c.1651G>C	ENSP00000412903.3:p.Val551Leu
ENST00000440486.8:c.1663G>C MANE Select	ENSP00000414914.2:p.Val555Leu
ENST00000481110.7:c.1666G>C	ENSP00000420533.2:p.Val556Leu
ENST00000260795.6:c.1663G>C	ENSP00000260795.2:p.Val555Leu
ENST00000340107.8:c.1669G>C	ENSP00000339824.4:p.Val557Leu
ENST00000352904.5:c.1327G>C	ENSP00000231803.1:p.Val443Leu
ENST00000412135.6:c.1327G>C	ENSP00000412903.2:p.Val443Leu
ENST00000440486.6:c.1663G>C	ENSP00000414914.2:p.Val555Leu
ENST00000469068.1:n.729G>C
ENST00000481110.6:c.1666G>C	ENSP00000420533.2:p.Val556Leu
ENST00000613647.4:c.*719G>C	ENSP00000479472.1:n.*719G>C
NM_000142.4:c.1663G>C , LRG_1021t1:c.1663G>C	NP_000133.1:p.Val555Leu
NM_001163213.1:c.1669G>C , LRG_1021t2:c.1669G>C	NP_001156685.1:p.Val557Leu
NM_022965.3:c.1327G>C	NP_075254.1:p.Val443Leu
XM_006713868.1:c.1675G>C	XP_006713931.1:p.Val559Leu
XM_006713869.1:c.1675G>C	XP_006713932.1:p.Val559Leu
XM_006713870.1:c.1672G>C	XP_006713933.1:p.Val558Leu
XM_006713871.1:c.1669G>C	XP_006713934.1:p.Val557Leu
XM_006713872.1:c.1666G>C	XP_006713935.1:p.Val556Leu
XM_006713873.1:c.1663G>C	XP_006713936.1:p.Val555Leu
XM_011513420.1:c.1669G>C	XP_011511722.1:p.Val557Leu
XM_011513422.1:c.1666G>C	XP_011511724.1:p.Val556Leu
NM_001354809.1:c.1666G>C	NP_001341738.1:p.Val556Leu
NM_001354810.1:c.1666G>C	NP_001341739.1:p.Val556Leu
NR_148971.1:n.2070G>C
NM_001354809.2:c.1666G>C	NP_001341738.1:p.Val556Leu
NM_001354810.2:c.1666G>C	NP_001341739.1:p.Val556Leu
NR_148971.2:n.2089G>C
NM_000142.5:c.1663G>C MANE Select	NP_000133.1:p.Val555Leu
NM_001163213.2:c.1669G>C	NP_001156685.1:p.Val557Leu
NM_022965.4:c.1327G>C	NP_075254.1:p.Val443Leu