Canonical Allele Identifier: CA351756368

Gene: VHL

Linked Data

• dbSNP Id: rs561874453
• gnomAD v3: 3-10149877-A-C
• gnomAD v4: 3-10149877-A-C
• MyVariant Identifiers: chr3:g.10191561A>C (hg19) ; chr3:g.10149877A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149877A>C , CM000665.2:g.10149877A>C	GRCh38
NC_000003.11:g.10191561A>C , CM000665.1:g.10191561A>C	GRCh37
NC_000003.10:g.10166561A>C	NCBI36
NG_008212.3:g.13243A>C , LRG_322:g.13243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*231A>C	ENSP00000512434.1:n.*231A>C
ENST00000696143.1:c.690A>C	ENSP00000512435.1:n.690A>C
ENST00000696153.1:c.665A>C	ENSP00000512444.1:p.Tyr222Ser
ENST00000256474.3:c.554A>C MANE Select	ENSP00000256474.3:p.Tyr185Ser
ENST00000256474.2:c.554A>C	ENSP00000256474.2:p.Tyr185Ser
ENST00000345392.2:c.431A>C	ENSP00000344757.2:p.Tyr144Ser
ENST00000477538.1:n.690A>C
NM_000551.3:c.554A>C , LRG_322t1:c.554A>C	NP_000542.1:p.Tyr185Ser
NM_198156.2:c.431A>C	NP_937799.1:p.Tyr144Ser
NM_001354723.1:c.*108A>C	NP_001341652.1:n.*108A>C
NM_000551.4:c.554A>C MANE Select	NP_000542.1:p.Tyr185Ser
NM_001354723.2:c.*108A>C	NP_001341652.1:n.*108A>C
NM_198156.3:c.431A>C	NP_937799.1:p.Tyr144Ser