Canonical Allele Identifier: CA232299418
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs967606405
gnomAD v3: 12-6036048-T-C
gnomAD v4: 12-6036048-T-C
MyVariant Identifiers: chr12:g.6145214T>C (hg19) chr12:g.6036048T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036048T>C , CM000674.2:g.6036048T>C GRCh38
NC_000012.11:g.6145214T>C , CM000674.1:g.6145214T>C GRCh37
NC_000012.10:g.6015475T>C NCBI36
NG_009072.1:g.93623A>G
NG_009072.2:g.93623A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+340A>G MANE Select ENSP00000261405.5:n.2546+340A>G
ENST00000261405.9:c.2546+340A>G ENSP00000261405.5:n.2546+340A>G
ENST00000538635.5:n.421-42114A>G
NM_000552.3:c.2546+340A>G NP_000543.2:n.2546+340A>G
NM_000552.4:c.2546+340A>G NP_000543.2:n.2546+340A>G
NM_000552.5:c.2546+340A>G MANE Select NP_000543.3:n.2546+340A>G
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