Canonical Allele Identifier: CA351748794

Gene: VHL

Linked Data

• ClinVar Variation Id: 1426858
• ClinVar RCV Id: RCV001929631
• dbSNP Id: rs869025616
• COSMIC: COSM97135
• MyVariant Identifiers: chr3:g.10183724T>A (hg19) ; chr3:g.10142040T>A (hg38)
• CIViC: CA351748794

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142040T>A , CM000665.2:g.10142040T>A	GRCh38
NC_000003.11:g.10183724T>A , CM000665.1:g.10183724T>A	GRCh37
NC_000003.10:g.10158724T>A	NCBI36
NG_008212.3:g.5406T>A , LRG_322:g.5406T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.193T>A	ENSP00000512434.1:p.Ser65Thr
ENST00000696143.1:c.193T>A	ENSP00000512435.1:p.Ser65Thr
ENST00000696153.1:c.193T>A	ENSP00000512444.1:p.Ser65Thr
ENST00000256474.3:c.193T>A MANE Select	ENSP00000256474.3:p.Ser65Thr
ENST00000256474.2:c.193T>A	ENSP00000256474.2:p.Ser65Thr
ENST00000345392.2:c.193T>A	ENSP00000344757.2:p.Ser65Thr
NM_000551.3:c.193T>A , LRG_322t1:c.193T>A	NP_000542.1:p.Ser65Thr
NM_198156.2:c.193T>A	NP_937799.1:p.Ser65Thr
XM_011534078.1:c.193T>A	XP_011532380.1:p.Ser65Thr
NM_001354723.1:c.193T>A	NP_001341652.1:p.Ser65Thr
NM_000551.4:c.193T>A MANE Select	NP_000542.1:p.Ser65Thr
NM_001354723.2:c.193T>A	NP_001341652.1:p.Ser65Thr
NM_198156.3:c.193T>A	NP_937799.1:p.Ser65Thr