Canonical Allele Identifier: CA2810599

Gene: FGFR3

Linked Data

• dbSNP Id: rs754301147
• ExAC: 4:1807714 G / GA
• gnomAD v2: 4-1807714-G-GA
• gnomAD v3: 4-1805987-G-GA
• gnomAD v4: 4-1805987-G-GA
• MyVariant Identifiers: chr4:g.1807714_1807715insA (hg19) ; chr4:g.1805987_1805988insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805988dup , CM000666.2:g.1805988dup	GRCh38
NC_000004.11:g.1807715dup , CM000666.1:g.1807715dup	GRCh37
NC_000004.10:g.1777513dup	NCBI36
NG_012632.1:g.17677dup , LRG_1021:g.17677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1842+48dup	ENSP00000339824.4:n.1842+48dup
ENST00000260795.8:c.*892+48dup	ENSP00000260795.3:n.*892+48dup
ENST00000352904.6:c.1500+48dup	ENSP00000231803.1:n.1500+48dup
ENST00000412135.7:c.1824+48dup	ENSP00000412903.3:n.1824+48dup
ENST00000440486.8:c.1836+48dup MANE Select	ENSP00000414914.2:n.1836+48dup
ENST00000481110.7:c.1839+48dup	ENSP00000420533.2:n.1839+48dup
ENST00000260795.6:c.1836+48dup	ENSP00000260795.2:n.1836+48dup
ENST00000340107.8:c.1842+48dup	ENSP00000339824.4:n.1842+48dup
ENST00000352904.5:c.1500+48dup	ENSP00000231803.1:n.1500+48dup
ENST00000412135.6:c.1500+48dup	ENSP00000412903.2:n.1500+48dup
ENST00000440486.6:c.1836+48dup	ENSP00000414914.2:n.1836+48dup
ENST00000481110.6:c.1839+48dup	ENSP00000420533.2:n.1839+48dup
ENST00000613647.4:c.*892+48dup	ENSP00000479472.1:n.*892+48dup
NM_000142.4:c.1836+48dup , LRG_1021t1:c.1836+48dup	NP_000133.1:n.1836+48dup
NM_001163213.1:c.1842+48dup , LRG_1021t2:c.1842+48dup	NP_001156685.1:n.1842+48dup
NM_022965.3:c.1500+48dup	NP_075254.1:n.1500+48dup
XM_006713868.1:c.1848+48dup	XP_006713931.1:n.1848+48dup
XM_006713869.1:c.1848+48dup	XP_006713932.1:n.1848+48dup
XM_006713870.1:c.1845+48dup	XP_006713933.1:n.1845+48dup
XM_006713871.1:c.1842+48dup	XP_006713934.1:n.1842+48dup
XM_006713872.1:c.1839+48dup	XP_006713935.1:n.1839+48dup
XM_006713873.1:c.1836+48dup	XP_006713936.1:n.1836+48dup
XM_011513420.1:c.1842+48dup	XP_011511722.1:n.1842+48dup
XM_011513422.1:c.1839+48dup	XP_011511724.1:n.1839+48dup
NM_001354809.1:c.1839+48dup	NP_001341738.1:n.1839+48dup
NM_001354810.1:c.1839+48dup	NP_001341739.1:n.1839+48dup
NR_148971.1:n.2243+48dup
NM_001354809.2:c.1839+48dup	NP_001341738.1:n.1839+48dup
NM_001354810.2:c.1839+48dup	NP_001341739.1:n.1839+48dup
NR_148971.2:n.2262+48dup
NM_000142.5:c.1836+48dup MANE Select	NP_000133.1:n.1836+48dup
NM_001163213.2:c.1842+48dup	NP_001156685.1:n.1842+48dup
NM_022965.4:c.1500+48dup	NP_075254.1:n.1500+48dup