Canonical Allele Identifier: CA91253124
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs971607941
gnomAD v2: 4-1805413-T-C
gnomAD v4: 4-1803686-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1803686T>C , CM000666.2:g.1803686T>C GRCh38
NC_000004.11:g.1805413T>C , CM000666.1:g.1805413T>C GRCh37
NC_000004.10:g.1775211T>C NCBI36
NG_012632.1:g.15375T>C , LRG_1021:g.15375T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340107.9:c.1081+622T>C ENSP00000339824.4:n.1081+622T>C
ENST00000260795.8:c.1082-6T>C ENSP00000260795.3:n.1082-6T>C
ENST00000352904.6:c.931-1138T>C ENSP00000231803.1:n.931-1138T>C
ENST00000412135.7:c.919-6T>C ENSP00000412903.3:n.919-6T>C
ENST00000440486.8:c.931-6T>C MANE Select ENSP00000414914.2:n.931-6T>C
ENST00000481110.7:c.931-6T>C ENSP00000420533.2:n.931-6T>C
ENST00000643463.1:n.226+622T>C
ENST00000260795.6:c.931-6T>C ENSP00000260795.2:n.931-6T>C
ENST00000340107.8:c.1081+622T>C ENSP00000339824.4:n.1081+622T>C
ENST00000352904.5:c.931-1138T>C ENSP00000231803.1:n.931-1138T>C
ENST00000412135.6:c.931-1138T>C ENSP00000412903.2:n.931-1138T>C
ENST00000440486.6:c.931-6T>C ENSP00000414914.2:n.931-6T>C
ENST00000481110.6:c.931-6T>C ENSP00000420533.2:n.931-6T>C
ENST00000507588.1:c.289-6T>C ENSP00000427289.1:n.289-6T>C
ENST00000613647.4:c.1082-6T>C ENSP00000479472.1:n.1082-6T>C
NM_000142.4:c.931-6T>C , LRG_1021t1:c.931-6T>C NP_000133.1:n.931-6T>C
NM_001163213.1:c.1081+622T>C , LRG_1021t2:c.1081+622T>C NP_001156685.1:n.1081+622T>C
NM_022965.3:c.931-1138T>C NP_075254.1:n.931-1138T>C
XM_006713868.1:c.1081+622T>C XP_006713931.1:n.1081+622T>C
XM_006713869.1:c.1081+622T>C XP_006713932.1:n.1081+622T>C
XM_006713870.1:c.1081+622T>C XP_006713933.1:n.1081+622T>C
XM_006713871.1:c.1081+622T>C XP_006713934.1:n.1081+622T>C
XM_006713872.1:c.931-6T>C XP_006713935.1:n.931-6T>C
XM_006713873.1:c.931-6T>C XP_006713936.1:n.931-6T>C
XM_011513420.1:c.931-6T>C XP_011511722.1:n.931-6T>C
XM_011513422.1:c.931-6T>C XP_011511724.1:n.931-6T>C
NM_001354809.1:c.931-6T>C NP_001341738.1:n.931-6T>C
NM_001354810.1:c.931-6T>C NP_001341739.1:n.931-6T>C
NR_148971.1:n.1338-6T>C
NM_001354809.2:c.931-6T>C NP_001341738.1:n.931-6T>C
NM_001354810.2:c.931-6T>C NP_001341739.1:n.931-6T>C
NR_148971.2:n.1357-6T>C
NM_000142.5:c.931-6T>C MANE Select NP_000133.1:n.931-6T>C
NM_001163213.2:c.1081+622T>C NP_001156685.1:n.1081+622T>C
NM_022965.4:c.931-1138T>C NP_075254.1:n.931-1138T>C