Canonical Allele Identifier: CA3038604310
Gene: FGFR4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177093243_177093245del , CM000667.2:g.177093243_177093245del GRCh38
NC_000005.9:g.176520244_176520246del , CM000667.1:g.176520244_176520246del GRCh37
NC_000005.8:g.176452850_176452852del NCBI36
NG_012067.1:g.11324_11326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000292408.9:c.1163_1165del MANE Select ENSP00000292408.4:p.Gly388_Leu389delinsVal
ENST00000292408.8:c.1163_1165del ENSP00000292408.4:p.Gly388_Leu389delinsVal
ENST00000393637.5:c.1058-89_1058-87del ENSP00000377254.1:n.1058-89_1058-87del
ENST00000393648.6:c.1097+66_1097+68del ENSP00000377259.2:n.1097+66_1097+68del
ENST00000502906.5:c.1163_1165del ENSP00000424960.1:p.Gly388_Leu389delinsVal
ENST00000508139.1:n.467_469del
ENST00000511076.1:c.69_71del
NM_001291980.1:c.1097+66_1097+68del NP_001278909.1:n.1097+66_1097+68del
NM_002011.4:c.1163_1165del NP_002002.3:p.Gly388_Leu389delinsVal
NM_022963.3:c.1058-89_1058-87del NP_075252.2:n.1058-89_1058-87del
NM_213647.2:c.1163_1165del NP_998812.1:p.Gly388_Leu389delinsVal
XM_005265838.2:c.1163_1165del XP_005265895.1:p.Gly388_Leu389delinsVal
XM_011534464.1:c.1256_1258del XP_011532766.1:p.Gly419_Leu420delinsVal
XM_011534465.1:c.845_847del XP_011532767.1:p.Gly282_Leu283delinsVal
XR_941090.1:n.1208_1210del
NM_001354984.1:c.1163_1165del NP_001341913.1:p.Gly388_Leu389delinsVal
NM_213647.3:c.1163_1165del MANE Select NP_998812.1:p.Gly388_Leu389delinsVal
NM_001291980.2:c.1097+66_1097+68del NP_001278909.1:n.1097+66_1097+68del
NM_001354984.2:c.1163_1165del NP_001341913.1:p.Gly388_Leu389delinsVal
NM_002011.5:c.1163_1165del NP_002002.3:p.Gly388_Leu389delinsVal