Canonical Allele Identifier: CA6403014

Gene: VWF

Linked Data

• dbSNP Id: rs754363142
• ExAC: 12:6143947 A / G
• gnomAD v2: 12-6143947-A-G
• gnomAD v3: 12-6034781-A-G
• gnomAD v4: 12-6034781-A-G
• MyVariant Identifiers: chr12:g.6143947A>G (hg19) ; chr12:g.6034781A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6034781A>G , CM000674.2:g.6034781A>G	GRCh38
NC_000012.11:g.6143947A>G , CM000674.1:g.6143947A>G	GRCh37
NC_000012.10:g.6014208A>G	NCBI36
NG_009072.1:g.94890T>C
NG_009072.2:g.94890T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2592T>C MANE Select	ENSP00000261405.5:p.Asp864=
ENST00000261405.9:c.2592T>C	ENSP00000261405.5:p.Asp864=
ENST00000538635.5:n.421-40847T>C
NM_000552.3:c.2592T>C	NP_000543.2:p.Asp864=
NM_000552.4:c.2592T>C	NP_000543.2:p.Asp864=
NM_000552.5:c.2592T>C MANE Select	NP_000543.3:p.Asp864=