Canonical Allele Identifier: CA2676682066

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177093215-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093217del , CM000667.2:g.177093217del	GRCh38
NC_000005.9:g.176520218del , CM000667.1:g.176520218del	GRCh37
NC_000005.8:g.176452824del	NCBI36
NG_012067.1:g.11298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1137del MANE Select	ENSP00000292408.4:p.Leu380TrpfsTer?
ENST00000292408.8:c.1137del	ENSP00000292408.4:p.Leu380TrpfsTer?
ENST00000393637.5:c.1058-115del	ENSP00000377254.1:n.1058-115del
ENST00000393648.6:c.1097+40del	ENSP00000377259.2:n.1097+40del
ENST00000502906.5:c.1137del	ENSP00000424960.1:p.Leu380TrpfsTer?
ENST00000508139.1:n.441del
ENST00000511076.1:c.43del
NM_001291980.1:c.1097+40del	NP_001278909.1:n.1097+40del
NM_002011.4:c.1137del	NP_002002.3:p.Leu380TrpfsTer?
NM_022963.3:c.1058-115del	NP_075252.2:n.1058-115del
NM_213647.2:c.1137del	NP_998812.1:p.Leu380TrpfsTer?
XM_005265838.2:c.1137del	XP_005265895.1:p.Leu380TrpfsTer?
XM_011534464.1:c.1230del	XP_011532766.1:p.Leu411TrpfsTer?
XM_011534465.1:c.819del	XP_011532767.1:p.Leu274TrpfsTer?
XR_941090.1:n.1182del
NM_001354984.1:c.1137del	NP_001341913.1:p.Leu380TrpfsTer?
NM_213647.3:c.1137del MANE Select	NP_998812.1:p.Leu380TrpfsTer?
NM_001291980.2:c.1097+40del	NP_001278909.1:n.1097+40del
NM_001354984.2:c.1137del	NP_001341913.1:p.Leu380TrpfsTer?
NM_002011.5:c.1137del	NP_002002.3:p.Leu380TrpfsTer?