Canonical Allele Identifier: CA2013892365
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944610870
gnomAD v4: 12-6058114-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058114G>C , CM000674.2:g.6058114G>C GRCh38
NC_000012.11:g.6167280G>C , CM000674.1:g.6167280G>C GRCh37
NC_000012.10:g.6037541G>C NCBI36
NG_009072.1:g.71557C>G
NG_009072.2:g.71557C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-70C>G MANE Select ENSP00000261405.5:n.1534-70C>G
ENST00000261405.9:c.1534-70C>G ENSP00000261405.5:n.1534-70C>G
ENST00000538635.5:n.420+52401C>G
NM_000552.3:c.1534-70C>G NP_000543.2:n.1534-70C>G
NM_000552.4:c.1534-70C>G NP_000543.2:n.1534-70C>G
NM_000552.5:c.1534-70C>G MANE Select NP_000543.3:n.1534-70C>G
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