Canonical Allele Identifier: CA1433505075
Community Standard Title: NM_000142.5(FGFR3):c.801G= (p.Leu267=)
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1801896G= , CM000666.2:g.1801896G= GRCh38
NC_000004.11:g.1803623G= , CM000666.1:g.1803623G= GRCh37
NC_000004.10:g.1773421G= NCBI36
NG_012632.1:g.13585G= , LRG_1021:g.13585G=

Transcript Alleles

HGVS Amino-acid Change
NM_000142.5:c.801G= MANE Select NP_000133.1:p.Leu267=
ENST00000440486.8:c.801G= MANE Select ENSP00000414914.2:p.Leu267=
NM_000142.4:c.801G= , LRG_1021t1:c.801G= NP_000133.1:p.Leu267=
NM_001163213.1:c.801G= , LRG_1021t2:c.801G= NP_001156685.1:p.Leu267=
NM_001163213.2:c.801G= NP_001156685.1:p.Leu267=
NM_001354809.1:c.801G= NP_001341738.1:p.Leu267=
NM_001354809.2:c.801G= NP_001341738.1:p.Leu267=
NM_001354810.1:c.801G= NP_001341739.1:p.Leu267=
NM_001354810.2:c.801G= NP_001341739.1:p.Leu267=
NM_022965.3:c.801G= NP_075254.1:p.Leu267=
NM_022965.4:c.801G= NP_075254.1:p.Leu267=
NR_148971.1:n.1057G=
NR_148971.2:n.1076G=
ENST00000260795.6:c.801G= ENSP00000260795.2:p.Leu267=
ENST00000260795.8:c.801G= ENSP00000260795.3:p.Leu267=
ENST00000340107.8:c.801G= ENSP00000339824.4:p.Leu267=
ENST00000340107.9:c.801G= ENSP00000339824.4:p.Leu267=
ENST00000352904.5:c.801G= ENSP00000231803.1:p.Leu267=
ENST00000352904.6:c.801G= ENSP00000231803.1:p.Leu267=
ENST00000412135.6:c.801G= ENSP00000412903.2:p.Leu267=
ENST00000412135.7:c.789G= ENSP00000412903.3:p.Leu263=
ENST00000440486.6:c.801G= ENSP00000414914.2:p.Leu267=
ENST00000474521.1:n.177G=
ENST00000481110.6:c.801G= ENSP00000420533.2:p.Leu267=
ENST00000481110.7:c.801G= ENSP00000420533.2:p.Leu267=
ENST00000507588.1:c.261G= ENSP00000427289.1:p.Leu87=
ENST00000613647.4:c.801G= ENSP00000479472.1:p.Leu267=
XM_006713868.1:c.801G= XP_006713931.1:p.Leu267=
XM_006713869.1:c.801G= XP_006713932.1:p.Leu267=
XM_006713870.1:c.801G= XP_006713933.1:p.Leu267=
XM_006713871.1:c.801G= XP_006713934.1:p.Leu267=
XM_006713872.1:c.801G= XP_006713935.1:p.Leu267=
XM_006713873.1:c.801G= XP_006713936.1:p.Leu267=
XM_011513420.1:c.801G= XP_011511722.1:p.Leu267=
XM_011513422.1:c.801G= XP_011511724.1:p.Leu267=