Canonical Allele Identifier: CA3576354

Gene: FGFR4

Linked Data

• dbSNP Id: rs757058931
• ExAC: 5:176520482 C / T
• gnomAD v2: 5-176520482-C-T
• MyVariant Identifiers: chr5:g.176520482C>T (hg19) ; chr5:g.177093481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093481C>T , CM000667.2:g.177093481C>T	GRCh38
NC_000005.9:g.176520482C>T , CM000667.1:g.176520482C>T	GRCh37
NC_000005.8:g.176453088C>T	NCBI36
NG_012067.1:g.11562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1327C>T MANE Select	ENSP00000292408.4:p.Pro443Ser
ENST00000292408.8:c.1327C>T	ENSP00000292408.4:p.Pro443Ser
ENST00000393637.5:c.1207C>T	ENSP00000377254.1:p.Pro403Ser
ENST00000393648.6:c.1173C>T	ENSP00000377259.2:p.Ala391=
ENST00000502906.5:c.1327C>T	ENSP00000424960.1:p.Pro443Ser
ENST00000508139.1:n.705C>T
ENST00000511076.1:c.221C>T
NM_001291980.1:c.1173C>T	NP_001278909.1:p.Ala391=
NM_002011.4:c.1327C>T	NP_002002.3:p.Pro443Ser
NM_022963.3:c.1207C>T	NP_075252.2:p.Pro403Ser
NM_213647.2:c.1327C>T	NP_998812.1:p.Pro443Ser
XM_005265838.2:c.1327C>T	XP_005265895.1:p.Pro443Ser
XM_011534464.1:c.1420C>T	XP_011532766.1:p.Pro474Ser
XM_011534465.1:c.1009C>T	XP_011532767.1:p.Pro337Ser
XR_941090.1:n.1372C>T
NM_001354984.1:c.1327C>T	NP_001341913.1:p.Pro443Ser
NM_213647.3:c.1327C>T MANE Select	NP_998812.1:p.Pro443Ser
NM_001291980.2:c.1173C>T	NP_001278909.1:p.Ala391=
NM_001354984.2:c.1327C>T	NP_001341913.1:p.Pro443Ser
NM_002011.5:c.1327C>T	NP_002002.3:p.Pro443Ser