Canonical Allele Identifier: CA549266761

Gene: FGFR3

Linked Data

• dbSNP Id: rs1290959971
• gnomAD v2: 4-1807703-G-GGCCCT
• gnomAD v4: 4-1805976-G-GGCCCT
• MyVariant Identifiers: chr4:g.1807703_1807704insGCCCT (hg19) ; chr4:g.1805976_1805977insGCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805983_1805987dup , CM000666.2:g.1805983_1805987dup	GRCh38
NC_000004.11:g.1807710_1807714dup , CM000666.1:g.1807710_1807714dup	GRCh37
NC_000004.10:g.1777508_1777512dup	NCBI36
NG_012632.1:g.17672_17676dup , LRG_1021:g.17672_17676dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1842+43_1842+47dup	ENSP00000339824.4:n.1842+43_1842+47dup
ENST00000260795.8:c.*892+43_*892+47dup	ENSP00000260795.3:n.*892+43_*892+47dup
ENST00000352904.6:c.1500+43_1500+47dup	ENSP00000231803.1:n.1500+43_1500+47dup
ENST00000412135.7:c.1824+43_1824+47dup	ENSP00000412903.3:n.1824+43_1824+47dup
ENST00000440486.8:c.1836+43_1836+47dup MANE Select	ENSP00000414914.2:n.1836+43_1836+47dup
ENST00000481110.7:c.1839+43_1839+47dup	ENSP00000420533.2:n.1839+43_1839+47dup
ENST00000260795.6:c.1836+43_1836+47dup	ENSP00000260795.2:n.1836+43_1836+47dup
ENST00000340107.8:c.1842+43_1842+47dup	ENSP00000339824.4:n.1842+43_1842+47dup
ENST00000352904.5:c.1500+43_1500+47dup	ENSP00000231803.1:n.1500+43_1500+47dup
ENST00000412135.6:c.1500+43_1500+47dup	ENSP00000412903.2:n.1500+43_1500+47dup
ENST00000440486.6:c.1836+43_1836+47dup	ENSP00000414914.2:n.1836+43_1836+47dup
ENST00000481110.6:c.1839+43_1839+47dup	ENSP00000420533.2:n.1839+43_1839+47dup
ENST00000613647.4:c.*892+43_*892+47dup	ENSP00000479472.1:n.*892+43_*892+47dup
NM_000142.4:c.1836+43_1836+47dup , LRG_1021t1:c.1836+43_1836+47dup	NP_000133.1:n.1836+43_1836+47dup
NM_001163213.1:c.1842+43_1842+47dup , LRG_1021t2:c.1842+43_1842+47dup	NP_001156685.1:n.1842+43_1842+47dup
NM_022965.3:c.1500+43_1500+47dup	NP_075254.1:n.1500+43_1500+47dup
XM_006713868.1:c.1848+43_1848+47dup	XP_006713931.1:n.1848+43_1848+47dup
XM_006713869.1:c.1848+43_1848+47dup	XP_006713932.1:n.1848+43_1848+47dup
XM_006713870.1:c.1845+43_1845+47dup	XP_006713933.1:n.1845+43_1845+47dup
XM_006713871.1:c.1842+43_1842+47dup	XP_006713934.1:n.1842+43_1842+47dup
XM_006713872.1:c.1839+43_1839+47dup	XP_006713935.1:n.1839+43_1839+47dup
XM_006713873.1:c.1836+43_1836+47dup	XP_006713936.1:n.1836+43_1836+47dup
XM_011513420.1:c.1842+43_1842+47dup	XP_011511722.1:n.1842+43_1842+47dup
XM_011513422.1:c.1839+43_1839+47dup	XP_011511724.1:n.1839+43_1839+47dup
NM_001354809.1:c.1839+43_1839+47dup	NP_001341738.1:n.1839+43_1839+47dup
NM_001354810.1:c.1839+43_1839+47dup	NP_001341739.1:n.1839+43_1839+47dup
NR_148971.1:n.2243+43_2243+47dup
NM_001354809.2:c.1839+43_1839+47dup	NP_001341738.1:n.1839+43_1839+47dup
NM_001354810.2:c.1839+43_1839+47dup	NP_001341739.1:n.1839+43_1839+47dup
NR_148971.2:n.2262+43_2262+47dup
NM_000142.5:c.1836+43_1836+47dup MANE Select	NP_000133.1:n.1836+43_1836+47dup
NM_001163213.2:c.1842+43_1842+47dup	NP_001156685.1:n.1842+43_1842+47dup
NM_022965.4:c.1500+43_1500+47dup	NP_075254.1:n.1500+43_1500+47dup