Canonical Allele Identifier: CA383498531
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1449653323
gnomAD v2: 12-6127585-G-A
gnomAD v4: 12-6018419-G-A
MyVariant Identifiers: chr12:g.6127585G>A (hg19) chr12:g.6018419G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018419G>A , CM000674.2:g.6018419G>A GRCh38
NC_000012.11:g.6127585G>A , CM000674.1:g.6127585G>A GRCh37
NC_000012.10:g.5997846G>A NCBI36
NG_009072.1:g.111252C>T
NG_009072.2:g.111252C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4999C>T MANE Select ENSP00000261405.5:p.Gln1667Ter
ENST00000261405.9:c.4999C>T ENSP00000261405.5:p.Gln1667Ter
ENST00000538635.5:n.421-24485C>T
NM_000552.3:c.4999C>T NP_000543.2:p.Gln1667Ter
NM_000552.4:c.4999C>T NP_000543.2:p.Gln1667Ter
NM_000552.5:c.4999C>T MANE Select NP_000543.3:p.Gln1667Ter
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