Canonical Allele Identifier: CA1058515205

Gene: FGFR3

Linked Data

• dbSNP Id: rs1721770766
• gnomAD v3: 4-1805465-A-AGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGG
• gnomAD v4: 4-1805465-A-AGATGCTGAAAGGTGAGGAGGGGGCGGCCAGGGGTGCAGAGCAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805466_1805510dup , CM000666.2:g.1805466_1805510dup	GRCh38
NC_000004.11:g.1807193_1807237dup , CM000666.1:g.1807193_1807237dup	GRCh37
NC_000004.10:g.1776991_1777035dup	NCBI36
NG_012632.1:g.17155_17199dup , LRG_1021:g.17155_17199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1530_1540+34dup
ENST00000260795.8:c.*580_*590+34dup
ENST00000352904.6:c.1188_1198+34dup
ENST00000412135.7:c.1512_1522+34dup
ENST00000440486.8:c.1524_1534+34dup
ENST00000481110.7:c.1527_1537+34dup
ENST00000260795.6:c.1524_1534+34dup
ENST00000340107.8:c.1530_1540+34dup
ENST00000352904.5:c.1188_1198+34dup
ENST00000412135.6:c.1188_1198+34dup
ENST00000440486.6:c.1524_1534+34dup
ENST00000469068.1:n.590_600+34dup
ENST00000481110.6:c.1527_1537+34dup
ENST00000613647.4:c.*580_*590+34dup
NM_000142.4:c.1524_1534+34dup , LRG_1021t1:c.1524_1534+34dup
NM_001163213.1:c.1530_1540+34dup , LRG_1021t2:c.1530_1540+34dup
NM_022965.3:c.1188_1198+34dup
XM_006713868.1:c.1536_1546+34dup
XM_006713869.1:c.1536_1546+34dup
XM_006713870.1:c.1533_1543+34dup
XM_006713871.1:c.1530_1540+34dup
XM_006713872.1:c.1527_1537+34dup
XM_006713873.1:c.1524_1534+34dup
XM_011513420.1:c.1530_1540+34dup
XM_011513422.1:c.1527_1537+34dup
NM_001354809.1:c.1527_1537+34dup
NM_001354810.1:c.1527_1537+34dup
NR_148971.1:n.1931_1941+34dup
NM_001354809.2:c.1527_1537+34dup
NM_001354810.2:c.1527_1537+34dup
NR_148971.2:n.1950_1960+34dup
NM_000142.5:c.1524_1534+34dup
NM_001163213.2:c.1530_1540+34dup
NM_022965.4:c.1188_1198+34dup