Canonical Allele Identifier: CA2810290

Gene: FGFR3

Linked Data

• dbSNP Id: rs760502257
• ExAC: 4:1806180 GC / G
• gnomAD v2: 4-1806180-GC-G
• gnomAD v3: 4-1804453-GC-G
• gnomAD v4: 4-1804453-GC-G
• MyVariant Identifiers: chr4:g.1806181del (hg19) ; chr4:g.1804454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804460del , CM000666.2:g.1804460del	GRCh38
NC_000004.11:g.1806187del , CM000666.1:g.1806187del	GRCh37
NC_000004.10:g.1775985del	NCBI36
NG_012632.1:g.16149del , LRG_1021:g.16149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1212del	ENSP00000339824.4:p.Lys405ArgfsTer29
ENST00000260795.8:c.*262del	ENSP00000260795.3:n.*262del
ENST00000352904.6:c.931-364del	ENSP00000231803.1:n.931-364del
ENST00000412135.7:c.1194del	ENSP00000412903.3:p.Lys399ArgfsTer29
ENST00000440486.8:c.1206del MANE Select	ENSP00000414914.2:p.Lys403ArgfsTer29
ENST00000481110.7:c.1206del	ENSP00000420533.2:p.Lys403ArgfsTer?
ENST00000643463.1:n.357del
ENST00000260795.6:c.1206del	ENSP00000260795.2:p.Lys403ArgfsTer29
ENST00000340107.8:c.1212del	ENSP00000339824.4:p.Lys405ArgfsTer29
ENST00000352904.5:c.931-364del	ENSP00000231803.1:n.931-364del
ENST00000412135.6:c.931-364del	ENSP00000412903.2:n.931-364del
ENST00000440486.6:c.1206del	ENSP00000414914.2:p.Lys403ArgfsTer29
ENST00000481110.6:c.1206del	ENSP00000420533.2:p.Lys403ArgfsTer?
ENST00000613647.4:c.*262del	ENSP00000479472.1:n.*262del
NM_000142.4:c.1206del , LRG_1021t1:c.1206del	NP_000133.1:p.Lys403ArgfsTer29
NM_001163213.1:c.1212del , LRG_1021t2:c.1212del	NP_001156685.1:p.Lys405ArgfsTer29
NM_022965.3:c.931-364del	NP_075254.1:n.931-364del
XM_006713868.1:c.1212del	XP_006713931.1:p.Lys405ArgfsTer21
XM_006713869.1:c.1212del	XP_006713932.1:p.Lys405ArgfsTer21
XM_006713870.1:c.1212del	XP_006713933.1:p.Lys405ArgfsTer?
XM_006713871.1:c.1212del	XP_006713934.1:p.Lys405ArgfsTer29
XM_006713872.1:c.1206del	XP_006713935.1:p.Lys403ArgfsTer?
XM_006713873.1:c.1206del	XP_006713936.1:p.Lys403ArgfsTer29
XM_011513420.1:c.1206del	XP_011511722.1:p.Lys403ArgfsTer21
XM_011513422.1:c.1206del	XP_011511724.1:p.Lys403ArgfsTer?
NM_001354809.1:c.1206del	NP_001341738.1:p.Lys403ArgfsTer?
NM_001354810.1:c.1206del	NP_001341739.1:p.Lys403ArgfsTer?
NR_148971.1:n.1613del
NM_001354809.2:c.1206del	NP_001341738.1:p.Lys403ArgfsTer?
NM_001354810.2:c.1206del	NP_001341739.1:p.Lys403ArgfsTer?
NR_148971.2:n.1632del
NM_000142.5:c.1206del MANE Select	NP_000133.1:p.Lys403ArgfsTer29
NM_001163213.2:c.1212del	NP_001156685.1:p.Lys405ArgfsTer29
NM_022965.4:c.931-364del	NP_075254.1:n.931-364del