Canonical Allele Identifier: CA2664400218

Gene: VHL

Linked Data

• gnomAD v4: 3-10150241-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150241T>C , CM000665.2:g.10150241T>C	GRCh38
NC_000003.11:g.10191925T>C , CM000665.1:g.10191925T>C	GRCh37
NC_000003.10:g.10166925T>C	NCBI36
NG_008212.3:g.13607T>C , LRG_322:g.13607T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*595T>C	ENSP00000512434.1:n.*595T>C
ENST00000696143.1:c.1054T>C	ENSP00000512435.1:n.1054T>C
ENST00000696153.1:c.*276T>C	ENSP00000512444.1:n.*276T>C
ENST00000256474.3:c.*276T>C MANE Select	ENSP00000256474.3:n.*276T>C
ENST00000256474.2:c.*276T>C	ENSP00000256474.2:n.*276T>C
ENST00000345392.2:c.*276T>C	ENSP00000344757.2:n.*276T>C
NM_000551.3:c.*276T>C , LRG_322t1:c.*276T>C	NP_000542.1:n.*276T>C
NM_198156.2:c.*276T>C	NP_937799.1:n.*276T>C
NM_001354723.1:c.*472T>C	NP_001341652.1:n.*472T>C
NM_000551.4:c.*276T>C MANE Select	NP_000542.1:n.*276T>C
NM_001354723.2:c.*472T>C	NP_001341652.1:n.*472T>C
NM_198156.3:c.*276T>C	NP_937799.1:n.*276T>C