Canonical Allele Identifier: CA228408

Gene: VWF

Linked Data

• ClinVar Variation Id: 31009
• ClinVar RCV Id: RCV000024001 ; RCV000086656 ; RCV000851956 ; RCV001800314 ; RCV002264640
• dbSNP Id: rs267607326
• gnomAD v4: 12-6022841-T-C
• MyVariant Identifiers: chr12:g.6132007T>C (hg19) ; chr12:g.6022841T>C (hg38)
• ERepo: CA228408/MONDO:0015628/081
• PubMed: PMID:20351307

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022841T>C , CM000674.2:g.6022841T>C	GRCh38
NC_000012.11:g.6132007T>C , CM000674.1:g.6132007T>C	GRCh37
NC_000012.10:g.6002268T>C	NCBI36
NG_009072.1:g.106830A>G
NG_009072.2:g.106830A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3437A>G MANE Select	ENSP00000261405.5:p.Tyr1146Cys
ENST00000261405.9:c.3437A>G	ENSP00000261405.5:p.Tyr1146Cys
ENST00000538635.5:n.421-28907A>G
NM_000552.3:c.3437A>G	NP_000543.2:p.Tyr1146Cys
NM_000552.4:c.3437A>G	NP_000543.2:p.Tyr1146Cys
NM_000552.5:c.3437A>G MANE Select	NP_000543.3:p.Tyr1146Cys