Canonical Allele Identifier: CA1058514803

Gene: FGFR3

Linked Data

• dbSNP Id: rs977014027
• gnomAD v3: 4-1804739-C-G
• gnomAD v4: 4-1804739-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804739C>G , CM000666.2:g.1804739C>G	GRCh38
NC_000004.11:g.1806466C>G , CM000666.1:g.1806466C>G	GRCh37
NC_000004.10:g.1776264C>G	NCBI36
NG_012632.1:g.16428C>G , LRG_1021:g.16428C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1273-85C>G	ENSP00000339824.4:n.1273-85C>G
ENST00000260795.8:c.*323-85C>G	ENSP00000260795.3:n.*323-85C>G
ENST00000352904.6:c.931-85C>G	ENSP00000231803.1:n.931-85C>G
ENST00000412135.7:c.1255-85C>G	ENSP00000412903.3:n.1255-85C>G
ENST00000440486.8:c.1267-85C>G MANE Select	ENSP00000414914.2:n.1267-85C>G
ENST00000481110.7:c.1267-82C>G	ENSP00000420533.2:n.1267-82C>G
ENST00000260795.6:c.1267-85C>G	ENSP00000260795.2:n.1267-85C>G
ENST00000340107.8:c.1273-85C>G	ENSP00000339824.4:n.1273-85C>G
ENST00000352904.5:c.931-85C>G	ENSP00000231803.1:n.931-85C>G
ENST00000412135.6:c.931-85C>G	ENSP00000412903.2:n.931-85C>G
ENST00000440486.6:c.1267-85C>G	ENSP00000414914.2:n.1267-85C>G
ENST00000469068.1:n.248C>G
ENST00000481110.6:c.1267-82C>G	ENSP00000420533.2:n.1267-82C>G
ENST00000613647.4:c.*323-85C>G	ENSP00000479472.1:n.*323-85C>G
NM_000142.4:c.1267-85C>G , LRG_1021t1:c.1267-85C>G	NP_000133.1:n.1267-85C>G
NM_001163213.1:c.1273-85C>G , LRG_1021t2:c.1273-85C>G	NP_001156685.1:n.1273-85C>G
NM_022965.3:c.931-85C>G	NP_075254.1:n.931-85C>G
XM_006713868.1:c.1279-85C>G	XP_006713931.1:n.1279-85C>G
XM_006713869.1:c.1279-85C>G	XP_006713932.1:n.1279-85C>G
XM_006713870.1:c.1273-82C>G	XP_006713933.1:n.1273-82C>G
XM_006713871.1:c.1273-85C>G	XP_006713934.1:n.1273-85C>G
XM_006713872.1:c.1267-82C>G	XP_006713935.1:n.1267-82C>G
XM_006713873.1:c.1267-85C>G	XP_006713936.1:n.1267-85C>G
XM_011513420.1:c.1273-85C>G	XP_011511722.1:n.1273-85C>G
XM_011513422.1:c.1267-82C>G	XP_011511724.1:n.1267-82C>G
NM_001354809.1:c.1267-82C>G	NP_001341738.1:n.1267-82C>G
NM_001354810.1:c.1267-82C>G	NP_001341739.1:n.1267-82C>G
NR_148971.1:n.1674-85C>G
NM_001354809.2:c.1267-82C>G	NP_001341738.1:n.1267-82C>G
NM_001354810.2:c.1267-82C>G	NP_001341739.1:n.1267-82C>G
NR_148971.2:n.1693-85C>G
NM_000142.5:c.1267-85C>G MANE Select	NP_000133.1:n.1267-85C>G
NM_001163213.2:c.1273-85C>G	NP_001156685.1:n.1273-85C>G
NM_022965.4:c.931-85C>G	NP_075254.1:n.931-85C>G