Canonical Allele Identifier: CA6402552
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 310062
ClinVar RCV Id: RCV000302817 RCV000756904 RCV002244788 RCV002244786 RCV002244787
dbSNP Id: rs11063987
ExAC: 12:6128280 T / C
gnomAD v2: 12-6128280-T-C
gnomAD v3: 12-6019114-T-C
gnomAD v4: 12-6019114-T-C
MyVariant Identifiers: chr12:g.6128280T>C (hg19) chr12:g.6019114T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019114T>C , CM000674.2:g.6019114T>C GRCh38
NC_000012.11:g.6128280T>C , CM000674.1:g.6128280T>C GRCh37
NC_000012.10:g.5998541T>C NCBI36
NG_009072.1:g.110557A>G
NG_009072.2:g.110557A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4304A>G MANE Select ENSP00000261405.5:p.Asn1435Ser
ENST00000261405.9:c.4304A>G ENSP00000261405.5:p.Asn1435Ser
ENST00000538635.5:n.421-25180A>G
NM_000552.3:c.4304A>G NP_000543.2:p.Asn1435Ser
NM_000552.4:c.4304A>G NP_000543.2:p.Asn1435Ser
NM_000552.5:c.4304A>G MANE Select NP_000543.3:p.Asn1435Ser
Search 100 bp 5'
Search 100 bp 3'