Canonical Allele Identifier: CA228528

Gene: VWF

Linked Data

• ClinVar Variation Id: 100323
• ClinVar RCV Id: RCV000086728 ; RCV000678768 ; RCV000851781
• dbSNP Id: rs61749408
• gnomAD v4: 12-6019336-A-G
• MyVariant Identifiers: chr12:g.6128502A>G (hg19) ; chr12:g.6019336A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019336A>G , CM000674.2:g.6019336A>G	GRCh38
NC_000012.11:g.6128502A>G , CM000674.1:g.6128502A>G	GRCh37
NC_000012.10:g.5998763A>G	NCBI36
NG_009072.1:g.110335T>C
NG_009072.2:g.110335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4082T>C MANE Select	ENSP00000261405.5:p.Leu1361Ser
ENST00000261405.9:c.4082T>C	ENSP00000261405.5:p.Leu1361Ser
ENST00000538635.5:n.421-25402T>C
NM_000552.3:c.4082T>C	NP_000543.2:p.Leu1361Ser
NM_000552.4:c.4082T>C	NP_000543.2:p.Leu1361Ser
NM_000552.5:c.4082T>C MANE Select	NP_000543.3:p.Leu1361Ser