Canonical Allele Identifier: CA1603396994
Community Standard Title: NM_213647.3(FGFR4):c.1185C= (p.Leu395=)
Gene: FGFR4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177093265C= , CM000667.2:g.177093265C= GRCh38
NC_000005.9:g.176520266C= , CM000667.1:g.176520266C= GRCh37
NC_000005.8:g.176452872C= NCBI36
NG_012067.1:g.11346C=

Transcript Alleles

HGVS Amino-acid Change
NM_213647.3:c.1185C= MANE Select NP_998812.1:p.Leu395=
ENST00000292408.9:c.1185C= MANE Select ENSP00000292408.4:p.Leu395=
NM_001291980.1:c.1097+88C= NP_001278909.1:n.1097+88C=
NM_001291980.2:c.1097+88C= NP_001278909.1:n.1097+88C=
NM_001354984.1:c.1185C= NP_001341913.1:p.Leu395=
NM_001354984.2:c.1185C= NP_001341913.1:p.Leu395=
NM_002011.4:c.1185C= NP_002002.3:p.Leu395=
NM_002011.5:c.1185C= NP_002002.3:p.Leu395=
NM_022963.3:c.1058-67C= NP_075252.2:n.1058-67C=
NM_213647.2:c.1185C= NP_998812.1:p.Leu395=
ENST00000292408.8:c.1185C= ENSP00000292408.4:p.Leu395=
ENST00000393637.5:c.1058-67C= ENSP00000377254.1:n.1058-67C=
ENST00000393648.6:c.1097+88C= ENSP00000377259.2:n.1097+88C=
ENST00000502906.5:c.1185C= ENSP00000424960.1:p.Leu395=
ENST00000508139.1:n.489C=
ENST00000511076.1:c.91C=
XM_005265838.2:c.1185C= XP_005265895.1:p.Leu395=
XM_011534464.1:c.1278C= XP_011532766.1:p.Leu426=
XM_011534465.1:c.867C= XP_011532767.1:p.Leu289=
XR_941090.1:n.1230C=