Canonical Allele Identifier: CA2669553247
Gene: FGFR3 HGNC NCBI

Linked Data

gnomAD v4: 4-1804732-C-CG

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804733dup , CM000666.2:g.1804733dup GRCh38
NC_000004.11:g.1806460dup , CM000666.1:g.1806460dup GRCh37
NC_000004.10:g.1776258dup NCBI36
NG_012632.1:g.16422dup , LRG_1021:g.16422dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1273-91dup ENSP00000339824.4:n.1273-91dup
ENST00000260795.8:c.*323-91dup ENSP00000260795.3:n.*323-91dup
ENST00000352904.6:c.931-91dup ENSP00000231803.1:n.931-91dup
ENST00000412135.7:c.1255-91dup ENSP00000412903.3:n.1255-91dup
ENST00000440486.8:c.1267-91dup MANE Select ENSP00000414914.2:n.1267-91dup
ENST00000481110.7:c.1267-88dup ENSP00000420533.2:n.1267-88dup
ENST00000260795.6:c.1267-91dup ENSP00000260795.2:n.1267-91dup
ENST00000340107.8:c.1273-91dup ENSP00000339824.4:n.1273-91dup
ENST00000352904.5:c.931-91dup ENSP00000231803.1:n.931-91dup
ENST00000412135.6:c.931-91dup ENSP00000412903.2:n.931-91dup
ENST00000440486.6:c.1267-91dup ENSP00000414914.2:n.1267-91dup
ENST00000469068.1:n.242dup
ENST00000481110.6:c.1267-88dup ENSP00000420533.2:n.1267-88dup
ENST00000613647.4:c.*323-91dup ENSP00000479472.1:n.*323-91dup
NM_000142.4:c.1267-91dup , LRG_1021t1:c.1267-91dup NP_000133.1:n.1267-91dup
NM_001163213.1:c.1273-91dup , LRG_1021t2:c.1273-91dup NP_001156685.1:n.1273-91dup
NM_022965.3:c.931-91dup NP_075254.1:n.931-91dup
XM_006713868.1:c.1279-91dup XP_006713931.1:n.1279-91dup
XM_006713869.1:c.1279-91dup XP_006713932.1:n.1279-91dup
XM_006713870.1:c.1273-88dup XP_006713933.1:n.1273-88dup
XM_006713871.1:c.1273-91dup XP_006713934.1:n.1273-91dup
XM_006713872.1:c.1267-88dup XP_006713935.1:n.1267-88dup
XM_006713873.1:c.1267-91dup XP_006713936.1:n.1267-91dup
XM_011513420.1:c.1273-91dup XP_011511722.1:n.1273-91dup
XM_011513422.1:c.1267-88dup XP_011511724.1:n.1267-88dup
NM_001354809.1:c.1267-88dup NP_001341738.1:n.1267-88dup
NM_001354810.1:c.1267-88dup NP_001341739.1:n.1267-88dup
NR_148971.1:n.1674-91dup
NM_001354809.2:c.1267-88dup NP_001341738.1:n.1267-88dup
NM_001354810.2:c.1267-88dup NP_001341739.1:n.1267-88dup
NR_148971.2:n.1693-91dup
NM_000142.5:c.1267-91dup MANE Select NP_000133.1:n.1267-91dup
NM_001163213.2:c.1273-91dup NP_001156685.1:n.1273-91dup
NM_022965.4:c.931-91dup NP_075254.1:n.931-91dup