Canonical Allele Identifier: CA603482949
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1161787807
gnomAD v2: 12-6127505-C-T
gnomAD v4: 12-6018339-C-T
MyVariant Identifiers: chr12:g.6127505C>T (hg19) chr12:g.6018339C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018339C>T , CM000674.2:g.6018339C>T GRCh38
NC_000012.11:g.6127505C>T , CM000674.1:g.6127505C>T GRCh37
NC_000012.10:g.5997766C>T NCBI36
NG_009072.1:g.111332G>A
NG_009072.2:g.111332G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5053+26G>A MANE Select ENSP00000261405.5:n.5053+26G>A
ENST00000261405.9:c.5053+26G>A ENSP00000261405.5:n.5053+26G>A
ENST00000538635.5:n.421-24405G>A
NM_000552.3:c.5053+26G>A NP_000543.2:n.5053+26G>A
NM_000552.4:c.5053+26G>A NP_000543.2:n.5053+26G>A
NM_000552.5:c.5053+26G>A MANE Select NP_000543.3:n.5053+26G>A
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