Canonical Allele Identifier: CA383511801

Gene: VWF

Linked Data

• dbSNP Id: rs1184092848
• gnomAD v3: 12-6023636-A-G
• gnomAD v4: 12-6023636-A-G
• MyVariant Identifiers: chr12:g.6132802A>G (hg19) ; chr12:g.6023636A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023636A>G , CM000674.2:g.6023636A>G	GRCh38
NC_000012.11:g.6132802A>G , CM000674.1:g.6132802A>G	GRCh37
NC_000012.10:g.6003063A>G	NCBI36
NG_009072.1:g.106035T>C
NG_009072.2:g.106035T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.3374T>C MANE Select	ENSP00000261405.5:p.Leu1125Ser
ENST00000261405.9:c.3374T>C	ENSP00000261405.5:p.Leu1125Ser
ENST00000538635.5:n.421-29702T>C
NM_000552.3:c.3374T>C	NP_000543.2:p.Leu1125Ser
NM_000552.4:c.3374T>C	NP_000543.2:p.Leu1125Ser
NM_000552.5:c.3374T>C MANE Select	NP_000543.3:p.Leu1125Ser