Canonical Allele Identifier: CA16617788

Gene: VHL

Linked Data

• ClinVar Variation Id: 418539
• ClinVar RCV Id: RCV000479431 ; RCV001036041
• dbSNP Id: rs1064793291
• MyVariant Identifiers: chr3:g.10188221G>T (hg19) ; chr3:g.10146537G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146537G>T , CM000665.2:g.10146537G>T	GRCh38
NC_000003.11:g.10188221G>T , CM000665.1:g.10188221G>T	GRCh37
NC_000003.10:g.10163221G>T	NCBI36
NG_008212.3:g.9903G>T , LRG_322:g.9903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*41G>T	ENSP00000512434.1:n.*41G>T
ENST00000696143.1:c.600-3250G>T	ENSP00000512435.1:n.600-3250G>T
ENST00000696153.1:c.364G>T	ENSP00000512444.1:p.Ala122Ser
ENST00000256474.3:c.364G>T MANE Select	ENSP00000256474.3:p.Ala122Ser
ENST00000256474.2:c.364G>T	ENSP00000256474.2:p.Ala122Ser
ENST00000345392.2:c.341-3250G>T	ENSP00000344757.2:n.341-3250G>T
ENST00000477538.1:n.500G>T
NM_000551.3:c.364G>T , LRG_322t1:c.364G>T	NP_000542.1:p.Ala122Ser
NM_198156.2:c.341-3250G>T	NP_937799.1:n.341-3250G>T
XM_011534078.1:c.*41G>T	XP_011532380.1:n.*41G>T
NM_001354723.1:c.*18-3250G>T	NP_001341652.1:n.*18-3250G>T
NM_000551.4:c.364G>T MANE Select	NP_000542.1:p.Ala122Ser
NM_001354723.2:c.*18-3250G>T	NP_001341652.1:n.*18-3250G>T
NM_198156.3:c.341-3250G>T	NP_937799.1:n.341-3250G>T