Canonical Allele Identifier: CA2013892449
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944611646
gnomAD v4: 12-6058184-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058184G>A , CM000674.2:g.6058184G>A GRCh38
NC_000012.11:g.6167350G>A , CM000674.1:g.6167350G>A GRCh37
NC_000012.10:g.6037611G>A NCBI36
NG_009072.1:g.71487C>T
NG_009072.2:g.71487C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-140C>T MANE Select ENSP00000261405.5:n.1534-140C>T
ENST00000261405.9:c.1534-140C>T ENSP00000261405.5:n.1534-140C>T
ENST00000538635.5:n.420+52331C>T
NM_000552.3:c.1534-140C>T NP_000543.2:n.1534-140C>T
NM_000552.4:c.1534-140C>T NP_000543.2:n.1534-140C>T
NM_000552.5:c.1534-140C>T MANE Select NP_000543.3:n.1534-140C>T