Canonical Allele Identifier: CA355981581
Gene: FGFR3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805643A>T , CM000666.2:g.1805643A>T GRCh38
NC_000004.11:g.1807370A>T , CM000666.1:g.1807370A>T GRCh37
NC_000004.10:g.1777168A>T NCBI36
NG_012632.1:g.17332A>T , LRG_1021:g.17332A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.1625A>T ENSP00000339824.4:p.Asn542Ile
ENST00000260795.8:c.*675A>T ENSP00000260795.3:n.*675A>T
ENST00000352904.6:c.1283A>T ENSP00000231803.1:p.Asn428Ile
ENST00000412135.7:c.1607A>T ENSP00000412903.3:p.Asn536Ile
ENST00000440486.8:c.1619A>T MANE Select ENSP00000414914.2:p.Asn540Ile
ENST00000481110.7:c.1622A>T ENSP00000420533.2:p.Asn541Ile
ENST00000260795.6:c.1619A>T ENSP00000260795.2:p.Asn540Ile
ENST00000340107.8:c.1625A>T ENSP00000339824.4:p.Asn542Ile
ENST00000352904.5:c.1283A>T ENSP00000231803.1:p.Asn428Ile
ENST00000412135.6:c.1283A>T ENSP00000412903.2:p.Asn428Ile
ENST00000440486.6:c.1619A>T ENSP00000414914.2:p.Asn540Ile
ENST00000469068.1:n.685A>T
ENST00000481110.6:c.1622A>T ENSP00000420533.2:p.Asn541Ile
ENST00000613647.4:c.*675A>T ENSP00000479472.1:n.*675A>T
NM_000142.4:c.1619A>T , LRG_1021t1:c.1619A>T NP_000133.1:p.Asn540Ile
NM_001163213.1:c.1625A>T , LRG_1021t2:c.1625A>T NP_001156685.1:p.Asn542Ile
NM_022965.3:c.1283A>T NP_075254.1:p.Asn428Ile
XM_006713868.1:c.1631A>T XP_006713931.1:p.Asn544Ile
XM_006713869.1:c.1631A>T XP_006713932.1:p.Asn544Ile
XM_006713870.1:c.1628A>T XP_006713933.1:p.Asn543Ile
XM_006713871.1:c.1625A>T XP_006713934.1:p.Asn542Ile
XM_006713872.1:c.1622A>T XP_006713935.1:p.Asn541Ile
XM_006713873.1:c.1619A>T XP_006713936.1:p.Asn540Ile
XM_011513420.1:c.1625A>T XP_011511722.1:p.Asn542Ile
XM_011513422.1:c.1622A>T XP_011511724.1:p.Asn541Ile
NM_001354809.1:c.1622A>T NP_001341738.1:p.Asn541Ile
NM_001354810.1:c.1622A>T NP_001341739.1:p.Asn541Ile
NR_148971.1:n.2026A>T
NM_001354809.2:c.1622A>T NP_001341738.1:p.Asn541Ile
NM_001354810.2:c.1622A>T NP_001341739.1:p.Asn541Ile
NR_148971.2:n.2045A>T
NM_000142.5:c.1619A>T MANE Select NP_000133.1:p.Asn540Ile
NM_001163213.2:c.1625A>T NP_001156685.1:p.Asn542Ile
NM_022965.4:c.1283A>T NP_075254.1:p.Asn428Ile