Canonical Allele Identifier: CA341412

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16338
• ClinVar RCV Id: RCV000017741 ; RCV000255372 ; RCV000415460 ; RCV000622950 ; RCV000763122 ; RCV001804740 ; RCV001332222 ; RCV002276553
• dbSNP Id: rs28933068
• gnomAD v4: 4-1805644-C-G
• MyVariant Identifiers: chr4:g.1807371C>G (hg19) ; chr4:g.1805644C>G (hg38)
• PubMed: PMID:1956068 ; PMID:4078868 ; PMID:7670477 ; PMID:7847369 ; PMID:8589686 ; PMID:8845844 ; PMID:9450868 ; PMID:9580776 ; PMID:9677066 ; PMID:9950359 ; PMID:10053006 ; PMID:10213050 ; PMID:10361991 ; PMID:10395236 ; PMID:10602123 ; PMID:10777366 ; PMID:12707965 ; PMID:15241680 ; PMID:16501574 ; PMID:17033969 ; PMID:17935505 ; PMID:17950653 ; PMID:18000976 ; PMID:18328977 ; PMID:18344207 ; PMID:19098178 ; PMID:19449410 ; PMID:20301650 ; PMID:22045636 ; PMID:22604720 ; PMID:23378035 ; PMID:23740942 ; PMID:23891399 ; PMID:24864036 ; PMID:25356217 ; PMID:25931420 ; PMID:26028288 ; PMID:26380986 ; PMID:26740388

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805644C>G , CM000666.2:g.1805644C>G	GRCh38
NC_000004.11:g.1807371C>G , CM000666.1:g.1807371C>G	GRCh37
NC_000004.10:g.1777169C>G	NCBI36
NG_012632.1:g.17333C>G , LRG_1021:g.17333C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1626C>G	ENSP00000339824.4:p.Asn542Lys
ENST00000260795.8:c.*676C>G	ENSP00000260795.3:n.*676C>G
ENST00000352904.6:c.1284C>G	ENSP00000231803.1:p.Asn428Lys
ENST00000412135.7:c.1608C>G	ENSP00000412903.3:p.Asn536Lys
ENST00000440486.8:c.1620C>G MANE Select	ENSP00000414914.2:p.Asn540Lys
ENST00000481110.7:c.1623C>G	ENSP00000420533.2:p.Asn541Lys
ENST00000260795.6:c.1620C>G	ENSP00000260795.2:p.Asn540Lys
ENST00000340107.8:c.1626C>G	ENSP00000339824.4:p.Asn542Lys
ENST00000352904.5:c.1284C>G	ENSP00000231803.1:p.Asn428Lys
ENST00000412135.6:c.1284C>G	ENSP00000412903.2:p.Asn428Lys
ENST00000440486.6:c.1620C>G	ENSP00000414914.2:p.Asn540Lys
ENST00000469068.1:n.686C>G
ENST00000481110.6:c.1623C>G	ENSP00000420533.2:p.Asn541Lys
ENST00000613647.4:c.*676C>G	ENSP00000479472.1:n.*676C>G
NM_000142.4:c.1620C>G , LRG_1021t1:c.1620C>G	NP_000133.1:p.Asn540Lys
NM_001163213.1:c.1626C>G , LRG_1021t2:c.1626C>G	NP_001156685.1:p.Asn542Lys
NM_022965.3:c.1284C>G	NP_075254.1:p.Asn428Lys
XM_006713868.1:c.1632C>G	XP_006713931.1:p.Asn544Lys
XM_006713869.1:c.1632C>G	XP_006713932.1:p.Asn544Lys
XM_006713870.1:c.1629C>G	XP_006713933.1:p.Asn543Lys
XM_006713871.1:c.1626C>G	XP_006713934.1:p.Asn542Lys
XM_006713872.1:c.1623C>G	XP_006713935.1:p.Asn541Lys
XM_006713873.1:c.1620C>G	XP_006713936.1:p.Asn540Lys
XM_011513420.1:c.1626C>G	XP_011511722.1:p.Asn542Lys
XM_011513422.1:c.1623C>G	XP_011511724.1:p.Asn541Lys
NM_001354809.1:c.1623C>G	NP_001341738.1:p.Asn541Lys
NM_001354810.1:c.1623C>G	NP_001341739.1:p.Asn541Lys
NR_148971.1:n.2027C>G
NM_001354809.2:c.1623C>G	NP_001341738.1:p.Asn541Lys
NM_001354810.2:c.1623C>G	NP_001341739.1:p.Asn541Lys
NR_148971.2:n.2046C>G
NM_000142.5:c.1620C>G MANE Select	NP_000133.1:p.Asn540Lys
NM_001163213.2:c.1626C>G	NP_001156685.1:p.Asn542Lys
NM_022965.4:c.1284C>G	NP_075254.1:p.Asn428Lys