Canonical Allele Identifier: CA362297020
Community Standard Title: NM_213647.3(FGFR4):c.1649T>G (p.Val550Gly)
Gene: FGFR4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177095551T>G , CM000667.2:g.177095551T>G GRCh38
NC_000005.9:g.176522552T>G , CM000667.1:g.176522552T>G GRCh37
NC_000005.8:g.176455158T>G NCBI36
NG_012067.1:g.13632T>G

Transcript Alleles

HGVS Amino-acid Change
NM_213647.3:c.1649T>G MANE Select NP_998812.1:p.Val550Gly
ENST00000292408.9:c.1649T>G MANE Select ENSP00000292408.4:p.Val550Gly
NM_001291980.1:c.1445T>G NP_001278909.1:p.Val482Gly
NM_001291980.2:c.1445T>G NP_001278909.1:p.Val482Gly
NM_001354984.1:c.1649T>G NP_001341913.1:p.Val550Gly
NM_001354984.2:c.1649T>G NP_001341913.1:p.Val550Gly
NM_002011.4:c.1649T>G NP_002002.3:p.Val550Gly
NM_002011.5:c.1649T>G NP_002002.3:p.Val550Gly
NM_022963.3:c.1529T>G NP_075252.2:p.Val510Gly
NM_213647.2:c.1649T>G NP_998812.1:p.Val550Gly
ENST00000292408.8:c.1649T>G ENSP00000292408.4:p.Val550Gly
ENST00000393637.5:c.1529T>G ENSP00000377254.1:p.Val510Gly
ENST00000393648.6:c.1445T>G ENSP00000377259.2:p.Val482Gly
ENST00000483872.2:n.635T>G
ENST00000502906.5:c.1649T>G ENSP00000424960.1:p.Val550Gly
ENST00000511076.1:c.543T>G
XM_005265838.2:c.1649T>G XP_005265895.1:p.Val550Gly
XM_011534464.1:c.1742T>G XP_011532766.1:p.Val581Gly
XM_011534465.1:c.1331T>G XP_011532767.1:p.Val444Gly
XR_941090.1:n.1644T>G