Canonical Allele Identifier: CA13771891
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1239182
ClinVar RCV Id: RCV001636090
dbSNP Id: rs216324
gnomAD v2: 12-6145225-A-G
gnomAD v3: 12-6036059-A-G
gnomAD v4: 12-6036059-A-G
MyVariant Identifiers: chr12:g.6145225A>G (hg19) chr12:g.6036059A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036059A>G , CM000674.2:g.6036059A>G GRCh38
NC_000012.11:g.6145225A>G , CM000674.1:g.6145225A>G GRCh37
NC_000012.10:g.6015486A>G NCBI36
NG_009072.1:g.93612T>C
NG_009072.2:g.93612T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+329T>C MANE Select ENSP00000261405.5:n.2546+329T>C
ENST00000261405.9:c.2546+329T>C ENSP00000261405.5:n.2546+329T>C
ENST00000538635.5:n.421-42125T>C
NM_000552.3:c.2546+329T>C NP_000543.2:n.2546+329T>C
NM_000552.4:c.2546+329T>C NP_000543.2:n.2546+329T>C
NM_000552.5:c.2546+329T>C MANE Select NP_000543.3:n.2546+329T>C
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