Canonical Allele Identifier: CA2013892310
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1225020106
gnomAD v4: 12-6058053-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058053G>A , CM000674.2:g.6058053G>A GRCh38
NC_000012.11:g.6167219G>A , CM000674.1:g.6167219G>A GRCh37
NC_000012.10:g.6037480G>A NCBI36
NG_009072.1:g.71618C>T
NG_009072.2:g.71618C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-9C>T MANE Select ENSP00000261405.5:n.1534-9C>T
ENST00000261405.9:c.1534-9C>T ENSP00000261405.5:n.1534-9C>T
ENST00000538635.5:n.420+52462C>T
NM_000552.3:c.1534-9C>T NP_000543.2:n.1534-9C>T
NM_000552.4:c.1534-9C>T NP_000543.2:n.1534-9C>T
NM_000552.5:c.1534-9C>T MANE Select NP_000543.3:n.1534-9C>T
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