Canonical Allele Identifier: CA2809972

Gene: FGFR3

Linked Data

• dbSNP Id: rs373470718
• ExAC: 4:1803570 C / A
• gnomAD v2: 4-1803570-C-A
• gnomAD v4: 4-1801843-C-A
• MyVariant Identifiers: chr4:g.1803570C>A (hg19) ; chr4:g.1801843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1801843C>A , CM000666.2:g.1801843C>A	GRCh38
NC_000004.11:g.1803570C>A , CM000666.1:g.1803570C>A	GRCh37
NC_000004.10:g.1773368C>A	NCBI36
NG_012632.1:g.13532C>A , LRG_1021:g.13532C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.748C>A	ENSP00000339824.4:p.Pro250Thr
ENST00000260795.8:c.748C>A	ENSP00000260795.3:p.Pro250Thr
ENST00000352904.6:c.748C>A	ENSP00000231803.1:p.Pro250Thr
ENST00000412135.7:c.736C>A	ENSP00000412903.3:p.Pro246Thr
ENST00000440486.8:c.748C>A MANE Select	ENSP00000414914.2:p.Pro250Thr
ENST00000481110.7:c.748C>A	ENSP00000420533.2:p.Pro250Thr
ENST00000260795.6:c.748C>A	ENSP00000260795.2:p.Pro250Thr
ENST00000340107.8:c.748C>A	ENSP00000339824.4:p.Pro250Thr
ENST00000352904.5:c.748C>A	ENSP00000231803.1:p.Pro250Thr
ENST00000412135.6:c.748C>A	ENSP00000412903.2:p.Pro250Thr
ENST00000440486.6:c.748C>A	ENSP00000414914.2:p.Pro250Thr
ENST00000474521.1:n.124C>A
ENST00000481110.6:c.748C>A	ENSP00000420533.2:p.Pro250Thr
ENST00000507588.1:c.208C>A	ENSP00000427289.1:p.Pro70Thr
ENST00000613647.4:c.748C>A	ENSP00000479472.1:p.Pro250Thr
NM_000142.4:c.748C>A , LRG_1021t1:c.748C>A	NP_000133.1:p.Pro250Thr
NM_001163213.1:c.748C>A , LRG_1021t2:c.748C>A	NP_001156685.1:p.Pro250Thr
NM_022965.3:c.748C>A	NP_075254.1:p.Pro250Thr
XM_006713868.1:c.748C>A	XP_006713931.1:p.Pro250Thr
XM_006713869.1:c.748C>A	XP_006713932.1:p.Pro250Thr
XM_006713870.1:c.748C>A	XP_006713933.1:p.Pro250Thr
XM_006713871.1:c.748C>A	XP_006713934.1:p.Pro250Thr
XM_006713872.1:c.748C>A	XP_006713935.1:p.Pro250Thr
XM_006713873.1:c.748C>A	XP_006713936.1:p.Pro250Thr
XM_011513420.1:c.748C>A	XP_011511722.1:p.Pro250Thr
XM_011513422.1:c.748C>A	XP_011511724.1:p.Pro250Thr
NM_001354809.1:c.748C>A	NP_001341738.1:p.Pro250Thr
NM_001354810.1:c.748C>A	NP_001341739.1:p.Pro250Thr
NR_148971.1:n.1004C>A
NM_001354809.2:c.748C>A	NP_001341738.1:p.Pro250Thr
NM_001354810.2:c.748C>A	NP_001341739.1:p.Pro250Thr
NR_148971.2:n.1023C>A
NM_000142.5:c.748C>A MANE Select	NP_000133.1:p.Pro250Thr
NM_001163213.2:c.748C>A	NP_001156685.1:p.Pro250Thr
NM_022965.4:c.748C>A	NP_075254.1:p.Pro250Thr