Canonical Allele Identifier: CA341410

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16337
• ClinVar RCV Id: RCV000017740 ; RCV000255928 ; RCV000353403 ; RCV002273932 ; RCV004541008
• dbSNP Id: rs28933068
• gnomAD v2: 4-1807371-C-A
• MyVariant Identifiers: chr4:g.1807371C>A (hg19) ; chr4:g.1805644C>A (hg38)
• PubMed: PMID:4697848 ; PMID:7670477 ; PMID:8589686 ; PMID:9450868 ; PMID:9672519 ; PMID:9842995 ; PMID:10360392 ; PMID:10360393 ; PMID:20301650 ; PMID:23891399

Genomic Alleles

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

Transcript Alleles

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