Canonical Allele Identifier: CA2577505296

Gene: VHL

Linked Data

• gnomAD v4: 3-10150304-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150304G>C , CM000665.2:g.10150304G>C	GRCh38
NC_000003.11:g.10191988G>C , CM000665.1:g.10191988G>C	GRCh37
NC_000003.10:g.10166988G>C	NCBI36
NG_008212.3:g.13670G>C , LRG_322:g.13670G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*658G>C	ENSP00000512434.1:n.*658G>C
ENST00000696143.1:c.1117G>C	ENSP00000512435.1:n.1117G>C
ENST00000696153.1:c.*339G>C	ENSP00000512444.1:n.*339G>C
ENST00000256474.3:c.*339G>C MANE Select	ENSP00000256474.3:n.*339G>C
ENST00000256474.2:c.*339G>C	ENSP00000256474.2:n.*339G>C
ENST00000345392.2:c.*339G>C	ENSP00000344757.2:n.*339G>C
NM_000551.3:c.*339G>C , LRG_322t1:c.*339G>C	NP_000542.1:n.*339G>C
NM_198156.2:c.*339G>C	NP_937799.1:n.*339G>C
NM_001354723.1:c.*535G>C	NP_001341652.1:n.*535G>C
NM_000551.4:c.*339G>C MANE Select	NP_000542.1:n.*339G>C
NM_001354723.2:c.*535G>C	NP_001341652.1:n.*535G>C
NM_198156.3:c.*339G>C	NP_937799.1:n.*339G>C