Canonical Allele Identifier: CA040160

Gene: VHL

Linked Data

• dbSNP Id: rs750952266
• ExAC: 3:10191677 C / T
• gnomAD v2: 3-10191677-C-T
• gnomAD v4: 3-10149993-C-T
• MyVariant Identifiers: chr3:g.10191677C>T (hg19) ; chr3:g.10149993C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149993C>T , CM000665.2:g.10149993C>T	GRCh38
NC_000003.11:g.10191677C>T , CM000665.1:g.10191677C>T	GRCh37
NC_000003.10:g.10166677C>T	NCBI36
NG_008212.3:g.13359C>T , LRG_322:g.13359C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*347C>T	ENSP00000512434.1:n.*347C>T
ENST00000696143.1:c.806C>T	ENSP00000512435.1:n.806C>T
ENST00000696153.1:c.*28C>T	ENSP00000512444.1:n.*28C>T
ENST00000256474.3:c.*28C>T MANE Select	ENSP00000256474.3:n.*28C>T
ENST00000256474.2:c.*28C>T	ENSP00000256474.2:n.*28C>T
ENST00000345392.2:c.*28C>T	ENSP00000344757.2:n.*28C>T
ENST00000477538.1:n.806C>T
NM_000551.3:c.*28C>T , LRG_322t1:c.*28C>T	NP_000542.1:n.*28C>T
NM_198156.2:c.*28C>T	NP_937799.1:n.*28C>T
NM_001354723.1:c.*224C>T	NP_001341652.1:n.*224C>T
NM_000551.4:c.*28C>T MANE Select	NP_000542.1:n.*28C>T
NM_001354723.2:c.*224C>T	NP_001341652.1:n.*224C>T
NM_198156.3:c.*28C>T	NP_937799.1:n.*28C>T