Canonical Allele Identifier: CA3575785
Gene: FGFR4 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177089630G>A , CM000667.2:g.177089630G>A GRCh38
NC_000005.9:g.176516631G>A , CM000667.1:g.176516631G>A GRCh37
NC_000005.8:g.176449237G>A NCBI36
NG_012067.1:g.7711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000292408.9:c.28G>A MANE Select ENSP00000292408.4:p.Val10Ile
ENST00000292408.8:c.28G>A ENSP00000292408.4:p.Val10Ile
ENST00000393637.5:c.28G>A ENSP00000377254.1:p.Val10Ile
ENST00000393648.6:c.28G>A ENSP00000377259.2:p.Val10Ile
ENST00000426612.5:n.33G>A
ENST00000430285.5:c.28G>A ENSP00000395164.1:p.Val10Ile
ENST00000502906.5:c.28G>A ENSP00000424960.1:p.Val10Ile
ENST00000503708.5:c.28G>A ENSP00000424905.1:p.Val10Ile
ENST00000507708.1:n.184G>A
ENST00000509511.5:n.28G>A
ENST00000510911.5:c.28G>A ENSP00000427222.1:p.Val10Ile
ENST00000513166.1:c.28G>A ENSP00000422889.1:p.Val10Ile
ENST00000514472.1:c.28G>A ENSP00000426492.1:p.Val10Ile
NM_001291980.1:c.28G>A NP_001278909.1:p.Val10Ile
NM_002011.4:c.28G>A NP_002002.3:p.Val10Ile
NM_022963.3:c.28G>A NP_075252.2:p.Val10Ile
NM_213647.2:c.28G>A NP_998812.1:p.Val10Ile
XM_005265838.2:c.28G>A XP_005265895.1:p.Val10Ile
XM_011534464.1:c.121G>A XP_011532766.1:p.Val41Ile
XM_011534465.1:c.-346G>A XP_011532767.1:n.-346G>A
XR_941090.1:n.73G>A
NM_001354984.1:c.28G>A NP_001341913.1:p.Val10Ile
NM_213647.3:c.28G>A MANE Select NP_998812.1:p.Val10Ile
NM_001291980.2:c.28G>A NP_001278909.1:p.Val10Ile
NM_001354984.2:c.28G>A NP_001341913.1:p.Val10Ile
NM_002011.5:c.28G>A NP_002002.3:p.Val10Ile