Canonical Allele Identifier: CA355975840

Gene: FGFR3

Linked Data

• dbSNP Id: rs4647924
• gnomAD v3: 4-1801844-C-A
• gnomAD v4: 4-1801844-C-A
• MyVariant Identifiers: chr4:g.1803571C>A (hg19) ; chr4:g.1801844C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1801844C>A , CM000666.2:g.1801844C>A	GRCh38
NC_000004.11:g.1803571C>A , CM000666.1:g.1803571C>A	GRCh37
NC_000004.10:g.1773369C>A	NCBI36
NG_012632.1:g.13533C>A , LRG_1021:g.13533C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.749C>A	ENSP00000339824.4:p.Pro250Gln
ENST00000260795.8:c.749C>A	ENSP00000260795.3:p.Pro250Gln
ENST00000352904.6:c.749C>A	ENSP00000231803.1:p.Pro250Gln
ENST00000412135.7:c.737C>A	ENSP00000412903.3:p.Pro246Gln
ENST00000440486.8:c.749C>A MANE Select	ENSP00000414914.2:p.Pro250Gln
ENST00000481110.7:c.749C>A	ENSP00000420533.2:p.Pro250Gln
ENST00000260795.6:c.749C>A	ENSP00000260795.2:p.Pro250Gln
ENST00000340107.8:c.749C>A	ENSP00000339824.4:p.Pro250Gln
ENST00000352904.5:c.749C>A	ENSP00000231803.1:p.Pro250Gln
ENST00000412135.6:c.749C>A	ENSP00000412903.2:p.Pro250Gln
ENST00000440486.6:c.749C>A	ENSP00000414914.2:p.Pro250Gln
ENST00000474521.1:n.125C>A
ENST00000481110.6:c.749C>A	ENSP00000420533.2:p.Pro250Gln
ENST00000507588.1:c.209C>A	ENSP00000427289.1:p.Pro70Gln
ENST00000613647.4:c.749C>A	ENSP00000479472.1:p.Pro250Gln
NM_000142.4:c.749C>A , LRG_1021t1:c.749C>A	NP_000133.1:p.Pro250Gln
NM_001163213.1:c.749C>A , LRG_1021t2:c.749C>A	NP_001156685.1:p.Pro250Gln
NM_022965.3:c.749C>A	NP_075254.1:p.Pro250Gln
XM_006713868.1:c.749C>A	XP_006713931.1:p.Pro250Gln
XM_006713869.1:c.749C>A	XP_006713932.1:p.Pro250Gln
XM_006713870.1:c.749C>A	XP_006713933.1:p.Pro250Gln
XM_006713871.1:c.749C>A	XP_006713934.1:p.Pro250Gln
XM_006713872.1:c.749C>A	XP_006713935.1:p.Pro250Gln
XM_006713873.1:c.749C>A	XP_006713936.1:p.Pro250Gln
XM_011513420.1:c.749C>A	XP_011511722.1:p.Pro250Gln
XM_011513422.1:c.749C>A	XP_011511724.1:p.Pro250Gln
NM_001354809.1:c.749C>A	NP_001341738.1:p.Pro250Gln
NM_001354810.1:c.749C>A	NP_001341739.1:p.Pro250Gln
NR_148971.1:n.1005C>A
NM_001354809.2:c.749C>A	NP_001341738.1:p.Pro250Gln
NM_001354810.2:c.749C>A	NP_001341739.1:p.Pro250Gln
NR_148971.2:n.1024C>A
NM_000142.5:c.749C>A MANE Select	NP_000133.1:p.Pro250Gln
NM_001163213.2:c.749C>A	NP_001156685.1:p.Pro250Gln
NM_022965.4:c.749C>A	NP_075254.1:p.Pro250Gln