Canonical Allele Identifier: CA603102612
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1374427140
gnomAD v2: 12-6145312-A-C
gnomAD v3: 12-6036146-A-C
gnomAD v4: 12-6036146-A-C
MyVariant Identifiers: chr12:g.6145312A>C (hg19) chr12:g.6036146A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036146A>C , CM000674.2:g.6036146A>C GRCh38
NC_000012.11:g.6145312A>C , CM000674.1:g.6145312A>C GRCh37
NC_000012.10:g.6015573A>C NCBI36
NG_009072.1:g.93525T>G
NG_009072.2:g.93525T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+242T>G MANE Select ENSP00000261405.5:n.2546+242T>G
ENST00000261405.9:c.2546+242T>G ENSP00000261405.5:n.2546+242T>G
ENST00000538635.5:n.421-42212T>G
NM_000552.3:c.2546+242T>G NP_000543.2:n.2546+242T>G
NM_000552.4:c.2546+242T>G NP_000543.2:n.2546+242T>G
NM_000552.5:c.2546+242T>G MANE Select NP_000543.3:n.2546+242T>G
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