Canonical Allele Identifier: CA70055114

Gene: VHL

Linked Data

• dbSNP Id: rs557157382
• gnomAD v2: 3-10194968-A-T
• gnomAD v3: 3-10153284-A-T
• gnomAD v4: 3-10153284-A-T
• MyVariant Identifiers: chr3:g.10194968A>T (hg19) ; chr3:g.10153284A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153284A>T , CM000665.2:g.10153284A>T	GRCh38
NC_000003.11:g.10194968A>T , CM000665.1:g.10194968A>T	GRCh37
NC_000003.10:g.10169968A>T	NCBI36
NG_008212.3:g.16650A>T , LRG_322:g.16650A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3319A>T	ENSP00000512444.1:n.*3319A>T
ENST00000256474.3:c.*3319A>T MANE Select	ENSP00000256474.3:n.*3319A>T
NM_000551.3:c.*3319A>T , LRG_322t1:c.*3319A>T	NP_000542.1:n.*3319A>T
NM_198156.2:c.*3319A>T	NP_937799.1:n.*3319A>T
NM_001354723.1:c.*3515A>T	NP_001341652.1:n.*3515A>T
NM_000551.4:c.*3319A>T MANE Select	NP_000542.1:n.*3319A>T
NM_001354723.2:c.*3515A>T	NP_001341652.1:n.*3515A>T
NM_198156.3:c.*3319A>T	NP_937799.1:n.*3319A>T