Canonical Allele Identifier: CA351756325

Gene: VHL

Linked Data

• dbSNP Id: rs1224916824
• gnomAD v2: 3-10191553-G-T
• gnomAD v4: 3-10149869-G-T
• MyVariant Identifiers: chr3:g.10191553G>T (hg19) ; chr3:g.10149869G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149869G>T , CM000665.2:g.10149869G>T	GRCh38
NC_000003.11:g.10191553G>T , CM000665.1:g.10191553G>T	GRCh37
NC_000003.10:g.10166553G>T	NCBI36
NG_008212.3:g.13235G>T , LRG_322:g.13235G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*223G>T	ENSP00000512434.1:n.*223G>T
ENST00000696143.1:c.682G>T	ENSP00000512435.1:n.682G>T
ENST00000696153.1:c.657G>T	ENSP00000512444.1:p.Arg219Ser
ENST00000256474.3:c.546G>T MANE Select	ENSP00000256474.3:p.Arg182Ser
ENST00000256474.2:c.546G>T	ENSP00000256474.2:p.Arg182Ser
ENST00000345392.2:c.423G>T	ENSP00000344757.2:p.Arg141Ser
ENST00000477538.1:n.682G>T
NM_000551.3:c.546G>T , LRG_322t1:c.546G>T	NP_000542.1:p.Arg182Ser
NM_198156.2:c.423G>T	NP_937799.1:p.Arg141Ser
NM_001354723.1:c.*100G>T	NP_001341652.1:n.*100G>T
NM_000551.4:c.546G>T MANE Select	NP_000542.1:p.Arg182Ser
NM_001354723.2:c.*100G>T	NP_001341652.1:n.*100G>T
NM_198156.3:c.423G>T	NP_937799.1:p.Arg141Ser