Canonical Allele Identifier: CA2664400202

Gene: VHL

Linked Data

• gnomAD v4: 3-10150224-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150224T>C , CM000665.2:g.10150224T>C	GRCh38
NC_000003.11:g.10191908T>C , CM000665.1:g.10191908T>C	GRCh37
NC_000003.10:g.10166908T>C	NCBI36
NG_008212.3:g.13590T>C , LRG_322:g.13590T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*578T>C	ENSP00000512434.1:n.*578T>C
ENST00000696143.1:c.1037T>C	ENSP00000512435.1:n.1037T>C
ENST00000696153.1:c.*259T>C	ENSP00000512444.1:n.*259T>C
ENST00000256474.3:c.*259T>C MANE Select	ENSP00000256474.3:n.*259T>C
ENST00000256474.2:c.*259T>C	ENSP00000256474.2:n.*259T>C
ENST00000345392.2:c.*259T>C	ENSP00000344757.2:n.*259T>C
NM_000551.3:c.*259T>C , LRG_322t1:c.*259T>C	NP_000542.1:n.*259T>C
NM_198156.2:c.*259T>C	NP_937799.1:n.*259T>C
NM_001354723.1:c.*455T>C	NP_001341652.1:n.*455T>C
NM_000551.4:c.*259T>C MANE Select	NP_000542.1:n.*259T>C
NM_001354723.2:c.*455T>C	NP_001341652.1:n.*455T>C
NM_198156.3:c.*259T>C	NP_937799.1:n.*259T>C