Canonical Allele Identifier: CA564898698

Gene: FGFR4

Linked Data

• dbSNP Id: rs1327044918
• gnomAD v2: 5-176517662-ACT-A
• gnomAD v4: 5-177090661-ACT-A
• MyVariant Identifiers: chr5:g.176517663_176517664del (hg19) ; chr5:g.177090662_177090663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177090664_177090665del , CM000667.2:g.177090664_177090665del	GRCh38
NC_000005.9:g.176517665_176517666del , CM000667.1:g.176517665_176517666del	GRCh37
NC_000005.8:g.176450271_176450272del	NCBI36
NG_012067.1:g.8745_8746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.355+11_355+12del MANE Select	ENSP00000292408.4:n.355+11_355+12del
ENST00000292408.8:c.355+11_355+12del	ENSP00000292408.4:n.355+11_355+12del
ENST00000393637.5:c.355+11_355+12del	ENSP00000377254.1:n.355+11_355+12del
ENST00000393648.6:c.355+11_355+12del	ENSP00000377259.2:n.355+11_355+12del
ENST00000426612.5:n.360+11_360+12del
ENST00000430285.5:c.*219+11_*219+12del	ENSP00000395164.1:n.*219+11_*219+12del
ENST00000502906.5:c.355+11_355+12del	ENSP00000424960.1:n.355+11_355+12del
ENST00000503708.5:c.355+11_355+12del	ENSP00000424905.1:n.355+11_355+12del
ENST00000509511.5:n.355+11_355+12del
NM_001291980.1:c.355+11_355+12del	NP_001278909.1:n.355+11_355+12del
NM_002011.4:c.355+11_355+12del	NP_002002.3:n.355+11_355+12del
NM_022963.3:c.355+11_355+12del	NP_075252.2:n.355+11_355+12del
NM_213647.2:c.355+11_355+12del	NP_998812.1:n.355+11_355+12del
XM_005265838.2:c.355+11_355+12del	XP_005265895.1:n.355+11_355+12del
XM_011534464.1:c.448+11_448+12del	XP_011532766.1:n.448+11_448+12del
XM_011534465.1:c.37+11_37+12del	XP_011532767.1:n.37+11_37+12del
XR_941090.1:n.400+11_400+12del
NM_001354984.1:c.355+11_355+12del	NP_001341913.1:n.355+11_355+12del
NM_213647.3:c.355+11_355+12del MANE Select	NP_998812.1:n.355+11_355+12del
NM_001291980.2:c.355+11_355+12del	NP_001278909.1:n.355+11_355+12del
NM_001354984.2:c.355+11_355+12del	NP_001341913.1:n.355+11_355+12del
NM_002011.5:c.355+11_355+12del	NP_002002.3:n.355+11_355+12del