Canonical Allele Identifier: CA1044999775

Gene: VHL

Linked Data

• dbSNP Id: rs1696381191
• gnomAD v3: 3-10150389-T-G
• gnomAD v4: 3-10150389-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150389T>G , CM000665.2:g.10150389T>G	GRCh38
NC_000003.11:g.10192073T>G , CM000665.1:g.10192073T>G	GRCh37
NC_000003.10:g.10167073T>G	NCBI36
NG_008212.3:g.13755T>G , LRG_322:g.13755T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*743T>G	ENSP00000512434.1:n.*743T>G
ENST00000696143.1:c.1202T>G	ENSP00000512435.1:n.1202T>G
ENST00000696153.1:c.*424T>G	ENSP00000512444.1:n.*424T>G
ENST00000256474.3:c.*424T>G MANE Select	ENSP00000256474.3:n.*424T>G
ENST00000256474.2:c.*424T>G	ENSP00000256474.2:n.*424T>G
ENST00000345392.2:c.*424T>G	ENSP00000344757.2:n.*424T>G
NM_000551.3:c.*424T>G , LRG_322t1:c.*424T>G	NP_000542.1:n.*424T>G
NM_198156.2:c.*424T>G	NP_937799.1:n.*424T>G
NM_001354723.1:c.*620T>G	NP_001341652.1:n.*620T>G
NM_000551.4:c.*424T>G MANE Select	NP_000542.1:n.*424T>G
NM_001354723.2:c.*620T>G	NP_001341652.1:n.*620T>G
NM_198156.3:c.*424T>G	NP_937799.1:n.*424T>G