Canonical Allele Identifier: CA362290527
Gene: FGFR4 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177093150C>T , CM000667.2:g.177093150C>T GRCh38
NC_000005.9:g.176520151C>T , CM000667.1:g.176520151C>T GRCh37
NC_000005.8:g.176452757C>T NCBI36
NG_012067.1:g.11231C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292408.9:c.1070C>T MANE Select ENSP00000292408.4:p.Thr357Ile
ENST00000292408.8:c.1070C>T ENSP00000292408.4:p.Thr357Ile
ENST00000393637.5:c.1058-182C>T ENSP00000377254.1:n.1058-182C>T
ENST00000393648.6:c.1070C>T ENSP00000377259.2:p.Thr357Ile
ENST00000502906.5:c.1070C>T ENSP00000424960.1:p.Thr357Ile
ENST00000508139.1:n.374C>T
NM_001291980.1:c.1070C>T NP_001278909.1:p.Thr357Ile
NM_002011.4:c.1070C>T NP_002002.3:p.Thr357Ile
NM_022963.3:c.1058-182C>T NP_075252.2:n.1058-182C>T
NM_213647.2:c.1070C>T NP_998812.1:p.Thr357Ile
XM_005265838.2:c.1070C>T XP_005265895.1:p.Thr357Ile
XM_011534464.1:c.1163C>T XP_011532766.1:p.Thr388Ile
XM_011534465.1:c.752C>T XP_011532767.1:p.Thr251Ile
XR_941090.1:n.1115C>T
NM_001354984.1:c.1070C>T NP_001341913.1:p.Thr357Ile
NM_213647.3:c.1070C>T MANE Select NP_998812.1:p.Thr357Ile
NM_001291980.2:c.1070C>T NP_001278909.1:p.Thr357Ile
NM_001354984.2:c.1070C>T NP_001341913.1:p.Thr357Ile
NM_002011.5:c.1070C>T NP_002002.3:p.Thr357Ile