Canonical Allele Identifier: CA351756719

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149963T>C , CM000665.2:g.10149963T>C	GRCh38
NC_000003.11:g.10191647T>C , CM000665.1:g.10191647T>C	GRCh37
NC_000003.10:g.10166647T>C	NCBI36
NG_008212.3:g.13329T>C , LRG_322:g.13329T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000551.4:c.640T>C MANE Select	NP_000542.1:p.Ter214Arg
ENST00000256474.3:c.640T>C MANE Select	ENSP00000256474.3:p.Ter214Arg
NM_000551.3:c.640T>C , LRG_322t1:c.640T>C	NP_000542.1:p.Ter214Arg
NM_001354723.1:c.*194T>C	NP_001341652.1:n.*194T>C
NM_001354723.2:c.*194T>C	NP_001341652.1:n.*194T>C
NM_198156.2:c.517T>C	NP_937799.1:p.Ter173Arg
NM_198156.3:c.517T>C	NP_937799.1:p.Ter173Arg
ENST00000256474.2:c.640T>C	ENSP00000256474.2:p.Ter214Arg
ENST00000345392.2:c.517T>C	ENSP00000344757.2:p.Ter173Arg
ENST00000477538.1:n.776T>C
ENST00000696142.1:c.*317T>C	ENSP00000512434.1:n.*317T>C
ENST00000696143.1:c.776T>C	ENSP00000512435.1:n.776T>C
ENST00000696153.1:c.751T>C	ENSP00000512444.1:p.Ter251Arg