Canonical Allele Identifier: CA3576310

Gene: FGFR4

Linked Data

• dbSNP Id: rs753133571
• ExAC: 5:176520307 TCTCCCGCTTCC / T
• gnomAD v2: 5-176520307-TCTCCCGCTTCC-T
• gnomAD v3: 5-177093306-TCTCCCGCTTCC-T
• gnomAD v4: 5-177093306-TCTCCCGCTTCC-T
• COSMIC: COSM85741
• MyVariant Identifiers: chr5:g.176520308_176520318del (hg19) ; chr5:g.177093307_177093317del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093310_177093320del , CM000667.2:g.177093310_177093320del	GRCh38
NC_000005.9:g.176520311_176520321del , CM000667.1:g.176520311_176520321del	GRCh37
NC_000005.8:g.176452917_176452927del	NCBI36
NG_012067.1:g.11391_11401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1230_1240del MANE Select	ENSP00000292408.4:p.Arg411GlyfsTer?
ENST00000292408.8:c.1230_1240del	ENSP00000292408.4:p.Arg411GlyfsTer?
ENST00000393637.5:c.1058-22_1058-12del	ENSP00000377254.1:n.1058-22_1058-12del
ENST00000393648.6:c.1098-96_1098-86del	ENSP00000377259.2:n.1098-96_1098-86del
ENST00000502906.5:c.1230_1240del	ENSP00000424960.1:p.Arg411GlyfsTer?
ENST00000508139.1:n.534_544del
ENST00000511076.1:c.136_146del
NM_001291980.1:c.1098-96_1098-86del	NP_001278909.1:n.1098-96_1098-86del
NM_002011.4:c.1230_1240del	NP_002002.3:p.Arg411GlyfsTer?
NM_022963.3:c.1058-22_1058-12del	NP_075252.2:n.1058-22_1058-12del
NM_213647.2:c.1230_1240del	NP_998812.1:p.Arg411GlyfsTer?
XM_005265838.2:c.1230_1240del	XP_005265895.1:p.Arg411GlyfsTer?
XM_011534464.1:c.1323_1333del	XP_011532766.1:p.Arg442GlyfsTer?
XM_011534465.1:c.912_922del	XP_011532767.1:p.Arg305GlyfsTer?
XR_941090.1:n.1275_1285del
NM_001354984.1:c.1230_1240del	NP_001341913.1:p.Arg411GlyfsTer?
NM_213647.3:c.1230_1240del MANE Select	NP_998812.1:p.Arg411GlyfsTer?
NM_001291980.2:c.1098-96_1098-86del	NP_001278909.1:n.1098-96_1098-86del
NM_001354984.2:c.1230_1240del	NP_001341913.1:p.Arg411GlyfsTer?
NM_002011.5:c.1230_1240del	NP_002002.3:p.Arg411GlyfsTer?