Canonical Allele Identifier: CA228414

Gene: VWF

Linked Data

• ClinVar Variation Id: 100264
• ClinVar RCV Id: RCV000086659 ; RCV000851957 ; RCV001787053 ; RCV002264645
• dbSNP Id: rs267607328
• gnomAD v4: 12-6022811-G-A
• MyVariant Identifiers: chr12:g.6131977G>A (hg19) ; chr12:g.6022811G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022811G>A , CM000674.2:g.6022811G>A	GRCh38
NC_000012.11:g.6131977G>A , CM000674.1:g.6131977G>A	GRCh37
NC_000012.10:g.6002238G>A	NCBI36
NG_009072.1:g.106860C>T
NG_009072.2:g.106860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3467C>T MANE Select	ENSP00000261405.5:p.Thr1156Met
ENST00000261405.9:c.3467C>T	ENSP00000261405.5:p.Thr1156Met
ENST00000538635.5:n.421-28877C>T
NM_000552.3:c.3467C>T	NP_000543.2:p.Thr1156Met
NM_000552.4:c.3467C>T	NP_000543.2:p.Thr1156Met
NM_000552.5:c.3467C>T MANE Select	NP_000543.3:p.Thr1156Met