Canonical Allele Identifier: CA3576660
Gene: FGFR4 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.177096561C>A
GRCh37 chr5:g.176523562C>A
gnomAD v2:
5:176523562 C / A
gnomAD v3:
5:177096561 C / A
gnomAD v4:
chr5-177096561-C-A
Joint Max Group AF 0.99173149 (EAS)
Genomes Max Group AF 0.97620608 (EAS)
Exomes Max Group AF 0.99130455 (EAS)
dbSNP:
31777
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177096561C>A , CM000667.2:g.177096561C>A GRCh38
NC_000005.9:g.176523562C>A , CM000667.1:g.176523562C>A GRCh37
NC_000005.8:g.176456168C>A NCBI36
NG_012067.1:g.14642C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000292408.9:c.2016-43C>A MANE Select ENSP00000292408.4:n.2016-43C>A
ENST00000292408.8:c.2016-43C>A ENSP00000292408.4:n.2016-43C>A
ENST00000393637.5:c.1896-43C>A ENSP00000377254.1:n.1896-43C>A
ENST00000393648.6:c.1812-43C>A ENSP00000377259.2:n.1812-43C>A
ENST00000502906.5:c.2016-43C>A ENSP00000424960.1:n.2016-43C>A
NM_001291980.1:c.1812-43C>A NP_001278909.1:n.1812-43C>A
NM_002011.4:c.2016-43C>A NP_002002.3:n.2016-43C>A
NM_022963.3:c.1896-43C>A NP_075252.2:n.1896-43C>A
NM_213647.2:c.2016-43C>A NP_998812.1:n.2016-43C>A
XM_005265838.2:c.2016-43C>A XP_005265895.1:n.2016-43C>A
XM_011534464.1:c.2109-43C>A XP_011532766.1:n.2109-43C>A
XM_011534465.1:c.1698-43C>A XP_011532767.1:n.1698-43C>A
NM_001354984.1:c.2016-43C>A NP_001341913.1:n.2016-43C>A
NM_213647.3:c.2016-43C>A MANE Select NP_998812.1:n.2016-43C>A
NM_001291980.2:c.1812-43C>A NP_001278909.1:n.1812-43C>A
NM_001354984.2:c.2016-43C>A NP_001341913.1:n.2016-43C>A
NM_002011.5:c.2016-43C>A NP_002002.3:n.2016-43C>A
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