Canonical Allele Identifier: CA174780

Gene: RAB11FIP4

Linked Data

• ClinVar Variation Id: 161785
• ClinVar RCV Id: RCV000149321
• dbSNP Id: rs193921026
• COSMIC: COSM1178985
• MyVariant Identifiers: chr17:g.29858737A>T (hg19) ; chr17:g.31531719A>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31531719A>T , CM000679.2:g.31531719A>T	GRCh38
NC_000017.10:g.29858737A>T , CM000679.1:g.29858737A>T	GRCh37
NC_000017.9:g.26882857A>T	NCBI36
NG_051977.1:g.145096A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621161.5:c.1901A>T MANE Select	ENSP00000482620.1:p.Glu634Val
ENST00000394744.6:c.1595A>T	ENSP00000378227.2:p.Glu532Val
ENST00000578148.1:n.270A>T
ENST00000621161.4:c.1901A>T	ENSP00000482620.1:p.Glu634Val
NM_001303542.2:c.1595A>T	NP_001290471.2:p.Glu532Val
NM_032932.5:c.1901A>T	NP_116321.2:p.Glu634Val
NM_001346747.1:c.1400A>T	NP_001333676.1:p.Glu467Val
NM_001346748.1:c.1478A>T	NP_001333677.1:p.Glu493Val
NM_001346749.1:c.1121A>T	NP_001333678.1:p.Glu374Val
NM_032932.6:c.1901A>T MANE Select	NP_116321.2:p.Glu634Val
NM_001303542.3:c.1595A>T	NP_001290471.2:p.Glu532Val
NM_001346747.2:c.1400A>T	NP_001333676.1:p.Glu467Val
NM_001346748.2:c.1478A>T	NP_001333677.1:p.Glu493Val
NM_001346749.2:c.1121A>T	NP_001333678.1:p.Glu374Val