Canonical Allele Identifier: CA2810488

Gene: FGFR3

Linked Data

• dbSNP Id: rs748241961
• ExAC: 4:1807375 C / T
• gnomAD v2: 4-1807375-C-T
• gnomAD v4: 4-1805648-C-T
• MyVariant Identifiers: chr4:g.1807375C>T (hg19) ; chr4:g.1805648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805648C>T , CM000666.2:g.1805648C>T	GRCh38
NC_000004.11:g.1807375C>T , CM000666.1:g.1807375C>T	GRCh37
NC_000004.10:g.1777173C>T	NCBI36
NG_012632.1:g.17337C>T , LRG_1021:g.17337C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1630C>T	ENSP00000339824.4:p.Leu544=
ENST00000260795.8:c.*680C>T	ENSP00000260795.3:n.*680C>T
ENST00000352904.6:c.1288C>T	ENSP00000231803.1:p.Leu430=
ENST00000412135.7:c.1612C>T	ENSP00000412903.3:p.Leu538=
ENST00000440486.8:c.1624C>T MANE Select	ENSP00000414914.2:p.Leu542=
ENST00000481110.7:c.1627C>T	ENSP00000420533.2:p.Leu543=
ENST00000260795.6:c.1624C>T	ENSP00000260795.2:p.Leu542=
ENST00000340107.8:c.1630C>T	ENSP00000339824.4:p.Leu544=
ENST00000352904.5:c.1288C>T	ENSP00000231803.1:p.Leu430=
ENST00000412135.6:c.1288C>T	ENSP00000412903.2:p.Leu430=
ENST00000440486.6:c.1624C>T	ENSP00000414914.2:p.Leu542=
ENST00000469068.1:n.690C>T
ENST00000481110.6:c.1627C>T	ENSP00000420533.2:p.Leu543=
ENST00000613647.4:c.*680C>T	ENSP00000479472.1:n.*680C>T
NM_000142.4:c.1624C>T , LRG_1021t1:c.1624C>T	NP_000133.1:p.Leu542=
NM_001163213.1:c.1630C>T , LRG_1021t2:c.1630C>T	NP_001156685.1:p.Leu544=
NM_022965.3:c.1288C>T	NP_075254.1:p.Leu430=
XM_006713868.1:c.1636C>T	XP_006713931.1:p.Leu546=
XM_006713869.1:c.1636C>T	XP_006713932.1:p.Leu546=
XM_006713870.1:c.1633C>T	XP_006713933.1:p.Leu545=
XM_006713871.1:c.1630C>T	XP_006713934.1:p.Leu544=
XM_006713872.1:c.1627C>T	XP_006713935.1:p.Leu543=
XM_006713873.1:c.1624C>T	XP_006713936.1:p.Leu542=
XM_011513420.1:c.1630C>T	XP_011511722.1:p.Leu544=
XM_011513422.1:c.1627C>T	XP_011511724.1:p.Leu543=
NM_001354809.1:c.1627C>T	NP_001341738.1:p.Leu543=
NM_001354810.1:c.1627C>T	NP_001341739.1:p.Leu543=
NR_148971.1:n.2031C>T
NM_001354809.2:c.1627C>T	NP_001341738.1:p.Leu543=
NM_001354810.2:c.1627C>T	NP_001341739.1:p.Leu543=
NR_148971.2:n.2050C>T
NM_000142.5:c.1624C>T MANE Select	NP_000133.1:p.Leu542=
NM_001163213.2:c.1630C>T	NP_001156685.1:p.Leu544=
NM_022965.4:c.1288C>T	NP_075254.1:p.Leu430=