Canonical Allele Identifier: CA355981312

Gene: FGFR3

Linked Data

• MyVariant Identifiers: chr4:g.1807200A>C (hg19) ; chr4:g.1805473A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805473A>C , CM000666.2:g.1805473A>C	GRCh38
NC_000004.11:g.1807200A>C , CM000666.1:g.1807200A>C	GRCh37
NC_000004.10:g.1776998A>C	NCBI36
NG_012632.1:g.17162A>C , LRG_1021:g.17162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1537A>C	ENSP00000339824.4:p.Lys513Gln
ENST00000260795.8:c.*587A>C	ENSP00000260795.3:n.*587A>C
ENST00000352904.6:c.1195A>C	ENSP00000231803.1:p.Lys399Gln
ENST00000412135.7:c.1519A>C	ENSP00000412903.3:p.Lys507Gln
ENST00000440486.8:c.1531A>C MANE Select	ENSP00000414914.2:p.Lys511Gln
ENST00000481110.7:c.1534A>C	ENSP00000420533.2:p.Lys512Gln
ENST00000260795.6:c.1531A>C	ENSP00000260795.2:p.Lys511Gln
ENST00000340107.8:c.1537A>C	ENSP00000339824.4:p.Lys513Gln
ENST00000352904.5:c.1195A>C	ENSP00000231803.1:p.Lys399Gln
ENST00000412135.6:c.1195A>C	ENSP00000412903.2:p.Lys399Gln
ENST00000440486.6:c.1531A>C	ENSP00000414914.2:p.Lys511Gln
ENST00000469068.1:n.597A>C
ENST00000481110.6:c.1534A>C	ENSP00000420533.2:p.Lys512Gln
ENST00000613647.4:c.*587A>C	ENSP00000479472.1:n.*587A>C
NM_000142.4:c.1531A>C , LRG_1021t1:c.1531A>C	NP_000133.1:p.Lys511Gln
NM_001163213.1:c.1537A>C , LRG_1021t2:c.1537A>C	NP_001156685.1:p.Lys513Gln
NM_022965.3:c.1195A>C	NP_075254.1:p.Lys399Gln
XM_006713868.1:c.1543A>C	XP_006713931.1:p.Lys515Gln
XM_006713869.1:c.1543A>C	XP_006713932.1:p.Lys515Gln
XM_006713870.1:c.1540A>C	XP_006713933.1:p.Lys514Gln
XM_006713871.1:c.1537A>C	XP_006713934.1:p.Lys513Gln
XM_006713872.1:c.1534A>C	XP_006713935.1:p.Lys512Gln
XM_006713873.1:c.1531A>C	XP_006713936.1:p.Lys511Gln
XM_011513420.1:c.1537A>C	XP_011511722.1:p.Lys513Gln
XM_011513422.1:c.1534A>C	XP_011511724.1:p.Lys512Gln
NM_001354809.1:c.1534A>C	NP_001341738.1:p.Lys512Gln
NM_001354810.1:c.1534A>C	NP_001341739.1:p.Lys512Gln
NR_148971.1:n.1938A>C
NM_001354809.2:c.1534A>C	NP_001341738.1:p.Lys512Gln
NM_001354810.2:c.1534A>C	NP_001341739.1:p.Lys512Gln
NR_148971.2:n.1957A>C
NM_000142.5:c.1531A>C MANE Select	NP_000133.1:p.Lys511Gln
NM_001163213.2:c.1537A>C	NP_001156685.1:p.Lys513Gln
NM_022965.4:c.1195A>C	NP_075254.1:p.Lys399Gln