Canonical Allele Identifier: CA1044997060

Gene: VHL

Linked Data

• dbSNP Id: rs1696231856
• gnomAD v3: 3-10145464-G-C
• gnomAD v4: 3-10145464-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10145464G>C , CM000665.2:g.10145464G>C	GRCh38
NC_000003.11:g.10187148G>C , CM000665.1:g.10187148G>C	GRCh37
NC_000003.10:g.10162148G>C	NCBI36
NG_008212.3:g.8830G>C , LRG_322:g.8830G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-1050G>C	ENSP00000512434.1:n.*18-1050G>C
ENST00000696143.1:c.599+2443G>C	ENSP00000512435.1:n.599+2443G>C
ENST00000696153.1:c.341-1050G>C	ENSP00000512444.1:n.341-1050G>C
ENST00000256474.3:c.341-1050G>C MANE Select	ENSP00000256474.3:n.341-1050G>C
ENST00000256474.2:c.341-1050G>C	ENSP00000256474.2:n.341-1050G>C
ENST00000345392.2:c.340+3277G>C	ENSP00000344757.2:n.340+3277G>C
ENST00000477538.1:n.477-1050G>C
NM_000551.3:c.341-1050G>C , LRG_322t1:c.341-1050G>C	NP_000542.1:n.341-1050G>C
NM_198156.2:c.340+3277G>C	NP_937799.1:n.340+3277G>C
XM_011534078.1:c.*18-1050G>C	XP_011532380.1:n.*18-1050G>C
NM_001354723.1:c.*17+2443G>C	NP_001341652.1:n.*17+2443G>C
NM_000551.4:c.341-1050G>C MANE Select	NP_000542.1:n.341-1050G>C
NM_001354723.2:c.*17+2443G>C	NP_001341652.1:n.*17+2443G>C
NM_198156.3:c.340+3277G>C	NP_937799.1:n.340+3277G>C