Canonical Allele Identifier: CA383512342
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2576832
ClinVar RCV Id: RCV003323137
MyVariant Identifiers: chr12:g.6132947G>T (hg19) chr12:g.6023781G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023781G>T , CM000674.2:g.6023781G>T GRCh38
NC_000012.11:g.6132947G>T , CM000674.1:g.6132947G>T GRCh37
NC_000012.10:g.6003208G>T NCBI36
NG_009072.1:g.105890C>A
NG_009072.2:g.105890C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3229C>A MANE Select ENSP00000261405.5:p.Pro1077Thr
ENST00000261405.9:c.3229C>A ENSP00000261405.5:p.Pro1077Thr
ENST00000538635.5:n.421-29847C>A
NM_000552.3:c.3229C>A NP_000543.2:p.Pro1077Thr
NM_000552.4:c.3229C>A NP_000543.2:p.Pro1077Thr
NM_000552.5:c.3229C>A MANE Select NP_000543.3:p.Pro1077Thr
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