Canonical Allele Identifier: CA5423454

Gene: CUBN

Linked Data

• ClinVar Variation Id: 695689
• ClinVar RCV Id: RCV000861550
• dbSNP Id: rs141819241
• ExAC: 10:16957918 G / A
• gnomAD v2: 10-16957918-G-A
• gnomAD v3: 10-16915919-G-A
• gnomAD v4: 10-16915919-G-A
• MyVariant Identifiers: chr10:g.16957918G>A (hg19) ; chr10:g.16915919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.16915919G>A , CM000672.2:g.16915919G>A	GRCh38
NC_000010.10:g.16957918G>A , CM000672.1:g.16957918G>A	GRCh37
NC_000010.9:g.16997924G>A	NCBI36
NG_008967.1:g.218899C>T , LRG_540:g.218899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377833.10:c.7112C>T MANE Select	ENSP00000367064.4:p.Ser2371Phe
ENST00000377833.8:c.7112C>T	ENSP00000367064.4:p.Ser2371Phe
NM_001081.3:c.7112C>T , LRG_540t1:c.7112C>T	NP_001072.2:p.Ser2371Phe
XM_011519708.1:c.7112C>T	XP_011518010.1:p.Ser2371Phe
XM_011519709.1:c.3098C>T	XP_011518011.1:p.Ser1033Phe
XM_011519710.1:c.3074C>T	XP_011518012.1:p.Ser1025Phe
XM_011519711.1:c.2954C>T	XP_011518013.1:p.Ser985Phe
XM_011519708.2:c.7112C>T	XP_011518010.1:p.Ser2371Phe
XM_011519709.2:c.3098C>T	XP_011518011.1:p.Ser1033Phe
XM_011519710.2:c.3074C>T	XP_011518012.1:p.Ser1025Phe
XM_011519711.3:c.2954C>T	XP_011518013.1:p.Ser985Phe
NM_001081.4:c.7112C>T MANE Select	NP_001072.2:p.Ser2371Phe