Canonical Allele Identifier: CA351754023

Gene: VHL

Linked Data

• gnomAD v4: 3-10146577-T-C
• MyVariant Identifiers: chr3:g.10188261T>C (hg19) ; chr3:g.10146577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146577T>C , CM000665.2:g.10146577T>C	GRCh38
NC_000003.11:g.10188261T>C , CM000665.1:g.10188261T>C	GRCh37
NC_000003.10:g.10163261T>C	NCBI36
NG_008212.3:g.9943T>C , LRG_322:g.9943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*81T>C	ENSP00000512434.1:n.*81T>C
ENST00000696143.1:c.600-3210T>C	ENSP00000512435.1:n.600-3210T>C
ENST00000696153.1:c.404T>C	ENSP00000512444.1:p.Leu135Ser
ENST00000256474.3:c.404T>C MANE Select	ENSP00000256474.3:p.Leu135Ser
ENST00000256474.2:c.404T>C	ENSP00000256474.2:p.Leu135Ser
ENST00000345392.2:c.341-3210T>C	ENSP00000344757.2:n.341-3210T>C
ENST00000477538.1:n.540T>C
NM_000551.3:c.404T>C , LRG_322t1:c.404T>C	NP_000542.1:p.Leu135Ser
NM_198156.2:c.341-3210T>C	NP_937799.1:n.341-3210T>C
XM_011534078.1:c.*81T>C	XP_011532380.1:n.*81T>C
NM_001354723.1:c.*18-3210T>C	NP_001341652.1:n.*18-3210T>C
NM_000551.4:c.404T>C MANE Select	NP_000542.1:p.Leu135Ser
NM_001354723.2:c.*18-3210T>C	NP_001341652.1:n.*18-3210T>C
NM_198156.3:c.341-3210T>C	NP_937799.1:n.341-3210T>C