Canonical Allele Identifier: CA1433507818
Community Standard Title: NM_000142.5(FGFR3):c.1948A= (p.Lys650=)
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1806162A= , CM000666.2:g.1806162A= GRCh38
NC_000004.11:g.1807889A= , CM000666.1:g.1807889A= GRCh37
NC_000004.10:g.1777687A= NCBI36
NG_012632.1:g.17851A= , LRG_1021:g.17851A=

Transcript Alleles

HGVS Amino-acid Change
NM_000142.5:c.1948A= MANE Select NP_000133.1:p.Lys650=
ENST00000440486.8:c.1948A= MANE Select ENSP00000414914.2:p.Lys650=
NM_000142.4:c.1948A= , LRG_1021t1:c.1948A= NP_000133.1:p.Lys650=
NM_001163213.1:c.1954A= , LRG_1021t2:c.1954A= NP_001156685.1:p.Lys652=
NM_001163213.2:c.1954A= NP_001156685.1:p.Lys652=
NM_001354809.1:c.1951A= NP_001341738.1:p.Lys651=
NM_001354809.2:c.1951A= NP_001341738.1:p.Lys651=
NM_001354810.1:c.1951A= NP_001341739.1:p.Lys651=
NM_001354810.2:c.1951A= NP_001341739.1:p.Lys651=
NM_022965.3:c.1612A= NP_075254.1:p.Lys538=
NM_022965.4:c.1612A= NP_075254.1:p.Lys538=
NR_148971.1:n.2355A=
NR_148971.2:n.2374A=
ENST00000260795.6:c.1948A= ENSP00000260795.2:p.Lys650=
ENST00000260795.8:c.*1004A= ENSP00000260795.3:n.*1004A=
ENST00000340107.8:c.1954A= ENSP00000339824.4:p.Lys652=
ENST00000340107.9:c.1954A= ENSP00000339824.4:p.Lys652=
ENST00000352904.5:c.1612A= ENSP00000231803.1:p.Lys538=
ENST00000352904.6:c.1612A= ENSP00000231803.1:p.Lys538=
ENST00000412135.6:c.1612A= ENSP00000412903.2:p.Lys538=
ENST00000412135.7:c.1936A= ENSP00000412903.3:p.Lys646=
ENST00000440486.6:c.1948A= ENSP00000414914.2:p.Lys650=
ENST00000481110.6:c.1951A= ENSP00000420533.2:p.Lys651=
ENST00000481110.7:c.1951A= ENSP00000420533.2:p.Lys651=
ENST00000613647.4:c.*1004A= ENSP00000479472.1:n.*1004A=
XM_006713868.1:c.1960A= XP_006713931.1:p.Lys654=
XM_006713869.1:c.1960A= XP_006713932.1:p.Lys654=
XM_006713870.1:c.1957A= XP_006713933.1:p.Lys653=
XM_006713871.1:c.1954A= XP_006713934.1:p.Lys652=
XM_006713872.1:c.1951A= XP_006713935.1:p.Lys651=
XM_006713873.1:c.1948A= XP_006713936.1:p.Lys650=
XM_011513420.1:c.1954A= XP_011511722.1:p.Lys652=
XM_011513422.1:c.1951A= XP_011511724.1:p.Lys651=