Canonical Allele Identifier: CA228377

Gene: VWF

Linked Data

• ClinVar Variation Id: 100246
• ClinVar RCV Id: RCV000086638 ; RCV000852109 ; RCV002243721 ; RCV002280867
• dbSNP Id: rs61748495
• ExAC: 12:6135067 C / T
• gnomAD v2: 12-6135067-C-T
• gnomAD v3: 12-6025901-C-T
• gnomAD v4: 12-6025901-C-T
• MyVariant Identifiers: chr12:g.6135067C>T (hg19) ; chr12:g.6025901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6025901C>T , CM000674.2:g.6025901C>T	GRCh38
NC_000012.11:g.6135067C>T , CM000674.1:g.6135067C>T	GRCh37
NC_000012.10:g.6005328C>T	NCBI36
NG_009072.1:g.103770G>A
NG_009072.2:g.103770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3108+5G>A MANE Select	ENSP00000261405.5:n.3108+5G>A
ENST00000261405.9:c.3108+5G>A	ENSP00000261405.5:n.3108+5G>A
ENST00000538635.5:n.421-31967G>A
NM_000552.3:c.3108+5G>A	NP_000543.2:n.3108+5G>A
NM_000552.4:c.3108+5G>A	NP_000543.2:n.3108+5G>A
NM_000552.5:c.3108+5G>A MANE Select	NP_000543.3:n.3108+5G>A