Canonical Allele Identifier: CA2810598

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 1220220
• ClinVar RCV Id: RCV001590895
• dbSNP Id: rs17878554
• ExAC: 4:1807711 C / T
• gnomAD v2: 4-1807711-C-T
• gnomAD v3: 4-1805984-C-T
• gnomAD v4: 4-1805984-C-T
• MyVariant Identifiers: chr4:g.1807711C>T (hg19) ; chr4:g.1805984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805984C>T , CM000666.2:g.1805984C>T	GRCh38
NC_000004.11:g.1807711C>T , CM000666.1:g.1807711C>T	GRCh37
NC_000004.10:g.1777509C>T	NCBI36
NG_012632.1:g.17673C>T , LRG_1021:g.17673C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1842+44C>T	ENSP00000339824.4:n.1842+44C>T
ENST00000260795.8:c.*892+44C>T	ENSP00000260795.3:n.*892+44C>T
ENST00000352904.6:c.1500+44C>T	ENSP00000231803.1:n.1500+44C>T
ENST00000412135.7:c.1824+44C>T	ENSP00000412903.3:n.1824+44C>T
ENST00000440486.8:c.1836+44C>T MANE Select	ENSP00000414914.2:n.1836+44C>T
ENST00000481110.7:c.1839+44C>T	ENSP00000420533.2:n.1839+44C>T
ENST00000260795.6:c.1836+44C>T	ENSP00000260795.2:n.1836+44C>T
ENST00000340107.8:c.1842+44C>T	ENSP00000339824.4:n.1842+44C>T
ENST00000352904.5:c.1500+44C>T	ENSP00000231803.1:n.1500+44C>T
ENST00000412135.6:c.1500+44C>T	ENSP00000412903.2:n.1500+44C>T
ENST00000440486.6:c.1836+44C>T	ENSP00000414914.2:n.1836+44C>T
ENST00000481110.6:c.1839+44C>T	ENSP00000420533.2:n.1839+44C>T
ENST00000613647.4:c.*892+44C>T	ENSP00000479472.1:n.*892+44C>T
NM_000142.4:c.1836+44C>T , LRG_1021t1:c.1836+44C>T	NP_000133.1:n.1836+44C>T
NM_001163213.1:c.1842+44C>T , LRG_1021t2:c.1842+44C>T	NP_001156685.1:n.1842+44C>T
NM_022965.3:c.1500+44C>T	NP_075254.1:n.1500+44C>T
XM_006713868.1:c.1848+44C>T	XP_006713931.1:n.1848+44C>T
XM_006713869.1:c.1848+44C>T	XP_006713932.1:n.1848+44C>T
XM_006713870.1:c.1845+44C>T	XP_006713933.1:n.1845+44C>T
XM_006713871.1:c.1842+44C>T	XP_006713934.1:n.1842+44C>T
XM_006713872.1:c.1839+44C>T	XP_006713935.1:n.1839+44C>T
XM_006713873.1:c.1836+44C>T	XP_006713936.1:n.1836+44C>T
XM_011513420.1:c.1842+44C>T	XP_011511722.1:n.1842+44C>T
XM_011513422.1:c.1839+44C>T	XP_011511724.1:n.1839+44C>T
NM_001354809.1:c.1839+44C>T	NP_001341738.1:n.1839+44C>T
NM_001354810.1:c.1839+44C>T	NP_001341739.1:n.1839+44C>T
NR_148971.1:n.2243+44C>T
NM_001354809.2:c.1839+44C>T	NP_001341738.1:n.1839+44C>T
NM_001354810.2:c.1839+44C>T	NP_001341739.1:n.1839+44C>T
NR_148971.2:n.2262+44C>T
NM_000142.5:c.1836+44C>T MANE Select	NP_000133.1:n.1836+44C>T
NM_001163213.2:c.1842+44C>T	NP_001156685.1:n.1842+44C>T
NM_022965.4:c.1500+44C>T	NP_075254.1:n.1500+44C>T