Canonical Allele Identifier: CA6401422

Gene: VWF

Linked Data

• ClinVar Variation Id: 235639
• ClinVar RCV Id: RCV000224741 ; RCV000323842 ; RCV002243901 ; RCV002243902 ; RCV002243903 ; RCV004547572
• dbSNP Id: rs78353028
• ExAC: 12:6061675 G / A
• gnomAD v2: 12-6061675-G-A
• gnomAD v3: 12-5952509-G-A
• gnomAD v4: 12-5952509-G-A
• MyVariant Identifiers: chr12:g.6061675G>A (hg19) ; chr12:g.5952509G>A (hg38)
• ERepo: CA6401422/MONDO:0019565/090

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5952509G>A , CM000674.2:g.5952509G>A	GRCh38
NC_000012.11:g.6061675G>A , CM000674.1:g.6061675G>A	GRCh37
NC_000012.10:g.5931936G>A	NCBI36
NG_009072.1:g.177162C>T
NG_009072.2:g.177162C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7997C>T MANE Select	ENSP00000261405.5:p.Thr2666Met
ENST00000261405.9:c.7997C>T	ENSP00000261405.5:p.Thr2666Met
ENST00000612016.1:n.406C>T
ENST00000621700.1:n.315C>T
NM_000552.3:c.7997C>T	NP_000543.2:p.Thr2666Met
NM_000552.4:c.7997C>T	NP_000543.2:p.Thr2666Met
NM_000552.5:c.7997C>T MANE Select	NP_000543.3:p.Thr2666Met