Canonical Allele Identifier: CA6403349
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs748392115
ExAC: 12:6167242 C / G
gnomAD v2: 12-6167242-C-G
gnomAD v4: 12-6058076-C-G
MyVariant Identifiers: chr12:g.6167242C>G (hg19) chr12:g.6058076C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058076C>G , CM000674.2:g.6058076C>G GRCh38
NC_000012.11:g.6167242C>G , CM000674.1:g.6167242C>G GRCh37
NC_000012.10:g.6037503C>G NCBI36
NG_009072.1:g.71595G>C
NG_009072.2:g.71595G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-32G>C MANE Select ENSP00000261405.5:n.1534-32G>C
ENST00000261405.9:c.1534-32G>C ENSP00000261405.5:n.1534-32G>C
ENST00000538635.5:n.420+52439G>C
NM_000552.3:c.1534-32G>C NP_000543.2:n.1534-32G>C
NM_000552.4:c.1534-32G>C NP_000543.2:n.1534-32G>C
NM_000552.5:c.1534-32G>C MANE Select NP_000543.3:n.1534-32G>C
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