Canonical Allele Identifier: CA6402716
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs757454849
ExAC: 12:6131043 A / C
gnomAD v2: 12-6131043-A-C
gnomAD v4: 12-6021877-A-C
MyVariant Identifiers: chr12:g.6131043A>C (hg19) chr12:g.6021877A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021877A>C , CM000674.2:g.6021877A>C GRCh38
NC_000012.11:g.6131043A>C , CM000674.1:g.6131043A>C GRCh37
NC_000012.10:g.6001304A>C NCBI36
NG_009072.1:g.107794T>G
NG_009072.2:g.107794T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3674+23T>G MANE Select ENSP00000261405.5:n.3674+23T>G
ENST00000261405.9:c.3674+23T>G ENSP00000261405.5:n.3674+23T>G
ENST00000538635.5:n.421-27943T>G
ENST00000539641.1:n.27+23T>G
NM_000552.3:c.3674+23T>G NP_000543.2:n.3674+23T>G
NM_000552.4:c.3674+23T>G NP_000543.2:n.3674+23T>G
NM_000552.5:c.3674+23T>G MANE Select NP_000543.3:n.3674+23T>G
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