Canonical Allele Identifier: CA6403300

Gene: VWF

Linked Data

• dbSNP Id: rs745667020
• ExAC: 12:6167047 T / TG
• gnomAD v2: 12-6167047-T-TG
• gnomAD v4: 12-6057881-T-TG
• MyVariant Identifiers: chr12:g.6167047_6167048insG (hg19) ; chr12:g.6057881_6057882insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6057882dup , CM000674.2:g.6057882dup	GRCh38
NC_000012.11:g.6167048dup , CM000674.1:g.6167048dup	GRCh37
NC_000012.10:g.6037309dup	NCBI36
NG_009072.1:g.71789dup
NG_009072.2:g.71789dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1696dup MANE Select	ENSP00000261405.5:p.His566ProfsTer?
ENST00000261405.9:c.1696dup	ENSP00000261405.5:p.His566ProfsTer?
ENST00000538635.5:n.420+52633dup
NM_000552.3:c.1696dup	NP_000543.2:p.His566ProfsTer?
NM_000552.4:c.1696dup	NP_000543.2:p.His566ProfsTer?
NM_000552.5:c.1696dup MANE Select	NP_000543.3:p.His566ProfsTer?