Canonical Allele Identifier: CA6403573
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2642609
ClinVar RCV Id: RCV003396137
dbSNP Id: rs767726061
ExAC: 12:6181547 G / A
gnomAD v2: 12-6181547-G-A
gnomAD v3: 12-6072381-G-A
gnomAD v4: 12-6072381-G-A
MyVariant Identifiers: chr12:g.6181547G>A (hg19) chr12:g.6072381G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6072381G>A , CM000674.2:g.6072381G>A GRCh38
NC_000012.11:g.6181547G>A , CM000674.1:g.6181547G>A GRCh37
NC_000012.10:g.6051808G>A NCBI36
NG_009072.1:g.57290C>T
NG_009072.2:g.57290C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1059C>T MANE Select ENSP00000261405.5:p.Ser353=
ENST00000261405.9:c.1059C>T ENSP00000261405.5:p.Ser353=
ENST00000538635.5:n.420+38134C>T
NM_000552.3:c.1059C>T NP_000543.2:p.Ser353=
NM_000552.4:c.1059C>T NP_000543.2:p.Ser353=
NM_000552.5:c.1059C>T MANE Select NP_000543.3:p.Ser353=
Search 100 bp 5'
Search 100 bp 3'