Canonical Allele Identifier: CA020148

Gene: VHL

Linked Data

• ClinVar Variation Id: 2233
• ClinVar RCV Id: RCV000002321 ; RCV000115744 ; RCV000213077 ; RCV000418681 ; RCV000656990 ; RCV001080004 ; RCV002467489 ; RCV001843451 ; RCV003225718
• dbSNP Id: rs104893829
• ExAC: 3:10183772 C / T
• gnomAD v2: 3-10183772-C-T
• gnomAD v3: 3-10142088-C-T
• gnomAD v4: 3-10142088-C-T
• COSMIC: COSM17721
• MyVariant Identifiers: chr3:g.10183772C>T (hg19) ; chr3:g.10142088C>T (hg38)
• CIViC: CA020148
• PubMed: PMID:8634692 ; PMID:8707293 ; PMID:8956040 ; PMID:9829911 ; PMID:10567493 ; PMID:11106358 ; PMID:11739384 ; PMID:12414898 ; PMID:19408298 ; PMID:19906784 ; PMID:20447124 ; PMID:23990664 ; PMID:25157968 ; PMID:25637381 ; PMID:27146957
• ERepo: CA020148/MONDO:0008667/078

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142088C>T , CM000665.2:g.10142088C>T	GRCh38
NC_000003.11:g.10183772C>T , CM000665.1:g.10183772C>T	GRCh37
NC_000003.10:g.10158772C>T	NCBI36
NG_008212.3:g.5454C>T , LRG_322:g.5454C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.241C>T	ENSP00000512434.1:p.Pro81Ser
ENST00000696143.1:c.241C>T	ENSP00000512435.1:p.Pro81Ser
ENST00000696153.1:c.241C>T	ENSP00000512444.1:p.Pro81Ser
ENST00000256474.3:c.241C>T MANE Select	ENSP00000256474.3:p.Pro81Ser
ENST00000256474.2:c.241C>T	ENSP00000256474.2:p.Pro81Ser
ENST00000345392.2:c.241C>T	ENSP00000344757.2:p.Pro81Ser
NM_000551.3:c.241C>T , LRG_322t1:c.241C>T	NP_000542.1:p.Pro81Ser
NM_198156.2:c.241C>T	NP_937799.1:p.Pro81Ser
XM_011534078.1:c.241C>T	XP_011532380.1:p.Pro81Ser
NM_001354723.1:c.241C>T	NP_001341652.1:p.Pro81Ser
NM_000551.4:c.241C>T MANE Select	NP_000542.1:p.Pro81Ser
NM_001354723.2:c.241C>T	NP_001341652.1:p.Pro81Ser
NM_198156.3:c.241C>T	NP_937799.1:p.Pro81Ser