Canonical Allele Identifier: CA2810524
Community Standard Title: NM_000142.5(FGFR3):c.1646-11C>A
Gene: FGFR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1805739C>A , CM000666.2:g.1805739C>A GRCh38
NC_000004.11:g.1807466C>A , CM000666.1:g.1807466C>A GRCh37
NC_000004.10:g.1777264C>A NCBI36
NG_012632.1:g.17428C>A , LRG_1021:g.17428C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000142.5:c.1646-11C>A MANE Select NP_000133.1:n.1646-11C>A
ENST00000440486.8:c.1646-11C>A MANE Select ENSP00000414914.2:n.1646-11C>A
NM_000142.4:c.1646-11C>A , LRG_1021t1:c.1646-11C>A NP_000133.1:n.1646-11C>A
NM_001163213.1:c.1652-11C>A , LRG_1021t2:c.1652-11C>A NP_001156685.1:n.1652-11C>A
NM_001163213.2:c.1652-11C>A NP_001156685.1:n.1652-11C>A
NM_001354809.1:c.1649-11C>A NP_001341738.1:n.1649-11C>A
NM_001354809.2:c.1649-11C>A NP_001341738.1:n.1649-11C>A
NM_001354810.1:c.1649-11C>A NP_001341739.1:n.1649-11C>A
NM_001354810.2:c.1649-11C>A NP_001341739.1:n.1649-11C>A
NM_022965.3:c.1310-11C>A NP_075254.1:n.1310-11C>A
NM_022965.4:c.1310-11C>A NP_075254.1:n.1310-11C>A
NR_148971.1:n.2053-11C>A
NR_148971.2:n.2072-11C>A
ENST00000260795.6:c.1646-11C>A ENSP00000260795.2:n.1646-11C>A
ENST00000260795.8:c.*702-11C>A ENSP00000260795.3:n.*702-11C>A
ENST00000340107.8:c.1652-11C>A ENSP00000339824.4:n.1652-11C>A
ENST00000340107.9:c.1652-11C>A ENSP00000339824.4:n.1652-11C>A
ENST00000352904.5:c.1310-11C>A ENSP00000231803.1:n.1310-11C>A
ENST00000352904.6:c.1310-11C>A ENSP00000231803.1:n.1310-11C>A
ENST00000412135.6:c.1310-11C>A ENSP00000412903.2:n.1310-11C>A
ENST00000412135.7:c.1634-11C>A ENSP00000412903.3:n.1634-11C>A
ENST00000440486.6:c.1646-11C>A ENSP00000414914.2:n.1646-11C>A
ENST00000469068.1:n.712-11C>A
ENST00000481110.6:c.1649-11C>A ENSP00000420533.2:n.1649-11C>A
ENST00000481110.7:c.1649-11C>A ENSP00000420533.2:n.1649-11C>A
ENST00000613647.4:c.*702-11C>A ENSP00000479472.1:n.*702-11C>A
XM_006713868.1:c.1658-11C>A XP_006713931.1:n.1658-11C>A
XM_006713869.1:c.1658-11C>A XP_006713932.1:n.1658-11C>A
XM_006713870.1:c.1655-11C>A XP_006713933.1:n.1655-11C>A
XM_006713871.1:c.1652-11C>A XP_006713934.1:n.1652-11C>A
XM_006713872.1:c.1649-11C>A XP_006713935.1:n.1649-11C>A
XM_006713873.1:c.1646-11C>A XP_006713936.1:n.1646-11C>A
XM_011513420.1:c.1652-11C>A XP_011511722.1:n.1652-11C>A
XM_011513422.1:c.1649-11C>A XP_011511724.1:n.1649-11C>A