Canonical Allele Identifier: CA6402756
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 256669
ClinVar RCV Id: RCV000254215 RCV000283100 RCV002264675
dbSNP Id: rs566672558
ExAC: 12:6131959 G / A
gnomAD v2: 12-6131959-G-A
gnomAD v3: 12-6022793-G-A
gnomAD v4: 12-6022793-G-A
MyVariant Identifiers: chr12:g.6131959G>A (hg19) chr12:g.6022793G>A (hg38)
ERepo: CA6402756/MONDO:0019565/090
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6022793G>A , CM000674.2:g.6022793G>A GRCh38
NC_000012.11:g.6131959G>A , CM000674.1:g.6131959G>A GRCh37
NC_000012.10:g.6002220G>A NCBI36
NG_009072.1:g.106878C>T
NG_009072.2:g.106878C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3485C>T MANE Select ENSP00000261405.5:p.Pro1162Leu
ENST00000261405.9:c.3485C>T ENSP00000261405.5:p.Pro1162Leu
ENST00000538635.5:n.421-28859C>T
NM_000552.3:c.3485C>T NP_000543.2:p.Pro1162Leu
NM_000552.4:c.3485C>T NP_000543.2:p.Pro1162Leu
NM_000552.5:c.3485C>T MANE Select NP_000543.3:p.Pro1162Leu
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