Canonical Allele Identifier: CA2810420
Community Standard Title: NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile)
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805455G>A , CM000666.2:g.1805455G>A GRCh38
NC_000004.11:g.1807182G>A , CM000666.1:g.1807182G>A GRCh37
NC_000004.10:g.1776980G>A NCBI36
NG_012632.1:g.17144G>A , LRG_1021:g.17144G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000142.5:c.1513G>A MANE Select NP_000133.1:p.Val505Ile
ENST00000440486.8:c.1513G>A MANE Select ENSP00000414914.2:p.Val505Ile
NM_000142.4:c.1513G>A , LRG_1021t1:c.1513G>A NP_000133.1:p.Val505Ile
NM_001163213.1:c.1519G>A , LRG_1021t2:c.1519G>A NP_001156685.1:p.Val507Ile
NM_001163213.2:c.1519G>A NP_001156685.1:p.Val507Ile
NM_001354809.1:c.1516G>A NP_001341738.1:p.Val506Ile
NM_001354809.2:c.1516G>A NP_001341738.1:p.Val506Ile
NM_001354810.1:c.1516G>A NP_001341739.1:p.Val506Ile
NM_001354810.2:c.1516G>A NP_001341739.1:p.Val506Ile
NM_022965.3:c.1177G>A NP_075254.1:p.Val393Ile
NM_022965.4:c.1177G>A NP_075254.1:p.Val393Ile
NR_148971.1:n.1920G>A
NR_148971.2:n.1939G>A
ENST00000260795.6:c.1513G>A ENSP00000260795.2:p.Val505Ile
ENST00000260795.8:c.*569G>A ENSP00000260795.3:n.*569G>A
ENST00000340107.8:c.1519G>A ENSP00000339824.4:p.Val507Ile
ENST00000340107.9:c.1519G>A ENSP00000339824.4:p.Val507Ile
ENST00000352904.5:c.1177G>A ENSP00000231803.1:p.Val393Ile
ENST00000352904.6:c.1177G>A ENSP00000231803.1:p.Val393Ile
ENST00000412135.6:c.1177G>A ENSP00000412903.2:p.Val393Ile
ENST00000412135.7:c.1501G>A ENSP00000412903.3:p.Val501Ile
ENST00000440486.6:c.1513G>A ENSP00000414914.2:p.Val505Ile
ENST00000469068.1:n.579G>A
ENST00000481110.6:c.1516G>A ENSP00000420533.2:p.Val506Ile
ENST00000481110.7:c.1516G>A ENSP00000420533.2:p.Val506Ile
ENST00000613647.4:c.*569G>A ENSP00000479472.1:n.*569G>A
XM_006713868.1:c.1525G>A XP_006713931.1:p.Val509Ile
XM_006713869.1:c.1525G>A XP_006713932.1:p.Val509Ile
XM_006713870.1:c.1522G>A XP_006713933.1:p.Val508Ile
XM_006713871.1:c.1519G>A XP_006713934.1:p.Val507Ile
XM_006713872.1:c.1516G>A XP_006713935.1:p.Val506Ile
XM_006713873.1:c.1513G>A XP_006713936.1:p.Val505Ile
XM_011513420.1:c.1519G>A XP_011511722.1:p.Val507Ile
XM_011513422.1:c.1516G>A XP_011511724.1:p.Val506Ile