Canonical Allele Identifier: CA690492839
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1270040747
gnomAD v3: 12-6036060-G-C
gnomAD v4: 12-6036060-G-C
MyVariant Identifiers: chr12:g.6145226G>C (hg19) chr12:g.6036060G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036060G>C , CM000674.2:g.6036060G>C GRCh38
NC_000012.11:g.6145226G>C , CM000674.1:g.6145226G>C GRCh37
NC_000012.10:g.6015487G>C NCBI36
NG_009072.1:g.93611C>G
NG_009072.2:g.93611C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+328C>G MANE Select ENSP00000261405.5:n.2546+328C>G
ENST00000261405.9:c.2546+328C>G ENSP00000261405.5:n.2546+328C>G
ENST00000538635.5:n.421-42126C>G
NM_000552.3:c.2546+328C>G NP_000543.2:n.2546+328C>G
NM_000552.4:c.2546+328C>G NP_000543.2:n.2546+328C>G
NM_000552.5:c.2546+328C>G MANE Select NP_000543.3:n.2546+328C>G
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