Canonical Allele Identifier: CA232298867
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1022033438
gnomAD v3: 12-6031578-C-A
gnomAD v4: 12-6031578-C-A
MyVariant Identifiers: chr12:g.6140744C>A (hg19) chr12:g.6031578C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031578C>A , CM000674.2:g.6031578C>A GRCh38
NC_000012.11:g.6140744C>A , CM000674.1:g.6140744C>A GRCh37
NC_000012.10:g.6011005C>A NCBI36
NG_009072.1:g.98093G>T
NG_009072.2:g.98093G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2686G>T MANE Select ENSP00000261405.5:p.Asp896Tyr
ENST00000261405.9:c.2686G>T ENSP00000261405.5:p.Asp896Tyr
ENST00000538635.5:n.421-37644G>T
NM_000552.3:c.2686G>T NP_000543.2:p.Asp896Tyr
NM_000552.4:c.2686G>T NP_000543.2:p.Asp896Tyr
NM_000552.5:c.2686G>T MANE Select NP_000543.3:p.Asp896Tyr
Search 100 bp 5'
Search 100 bp 3'