Canonical Allele Identifier: CA2810491

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 2627343
• ClinVar RCV Id: RCV003388537
• dbSNP Id: rs762781471
• ExAC: 4:1807381 G / T
• gnomAD v2: 4-1807381-G-T
• gnomAD v4: 4-1805654-G-T
• MyVariant Identifiers: chr4:g.1807381G>T (hg19) ; chr4:g.1805654G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805654G>T , CM000666.2:g.1805654G>T	GRCh38
NC_000004.11:g.1807381G>T , CM000666.1:g.1807381G>T	GRCh37
NC_000004.10:g.1777179G>T	NCBI36
NG_012632.1:g.17343G>T , LRG_1021:g.17343G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1636G>T	ENSP00000339824.4:p.Ala546Ser
ENST00000260795.8:c.*686G>T	ENSP00000260795.3:n.*686G>T
ENST00000352904.6:c.1294G>T	ENSP00000231803.1:p.Ala432Ser
ENST00000412135.7:c.1618G>T	ENSP00000412903.3:p.Ala540Ser
ENST00000440486.8:c.1630G>T MANE Select	ENSP00000414914.2:p.Ala544Ser
ENST00000481110.7:c.1633G>T	ENSP00000420533.2:p.Ala545Ser
ENST00000260795.6:c.1630G>T	ENSP00000260795.2:p.Ala544Ser
ENST00000340107.8:c.1636G>T	ENSP00000339824.4:p.Ala546Ser
ENST00000352904.5:c.1294G>T	ENSP00000231803.1:p.Ala432Ser
ENST00000412135.6:c.1294G>T	ENSP00000412903.2:p.Ala432Ser
ENST00000440486.6:c.1630G>T	ENSP00000414914.2:p.Ala544Ser
ENST00000469068.1:n.696G>T
ENST00000481110.6:c.1633G>T	ENSP00000420533.2:p.Ala545Ser
ENST00000613647.4:c.*686G>T	ENSP00000479472.1:n.*686G>T
NM_000142.4:c.1630G>T , LRG_1021t1:c.1630G>T	NP_000133.1:p.Ala544Ser
NM_001163213.1:c.1636G>T , LRG_1021t2:c.1636G>T	NP_001156685.1:p.Ala546Ser
NM_022965.3:c.1294G>T	NP_075254.1:p.Ala432Ser
XM_006713868.1:c.1642G>T	XP_006713931.1:p.Ala548Ser
XM_006713869.1:c.1642G>T	XP_006713932.1:p.Ala548Ser
XM_006713870.1:c.1639G>T	XP_006713933.1:p.Ala547Ser
XM_006713871.1:c.1636G>T	XP_006713934.1:p.Ala546Ser
XM_006713872.1:c.1633G>T	XP_006713935.1:p.Ala545Ser
XM_006713873.1:c.1630G>T	XP_006713936.1:p.Ala544Ser
XM_011513420.1:c.1636G>T	XP_011511722.1:p.Ala546Ser
XM_011513422.1:c.1633G>T	XP_011511724.1:p.Ala545Ser
NM_001354809.1:c.1633G>T	NP_001341738.1:p.Ala545Ser
NM_001354810.1:c.1633G>T	NP_001341739.1:p.Ala545Ser
NR_148971.1:n.2037G>T
NM_001354809.2:c.1633G>T	NP_001341738.1:p.Ala545Ser
NM_001354810.2:c.1633G>T	NP_001341739.1:p.Ala545Ser
NR_148971.2:n.2056G>T
NM_000142.5:c.1630G>T MANE Select	NP_000133.1:p.Ala544Ser
NM_001163213.2:c.1636G>T	NP_001156685.1:p.Ala546Ser
NM_022965.4:c.1294G>T	NP_075254.1:p.Ala432Ser