Canonical Allele Identifier: CA383512270
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1591866311
MyVariant Identifiers: chr12:g.6132914T>G (hg19) chr12:g.6023748T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023748T>G , CM000674.2:g.6023748T>G GRCh38
NC_000012.11:g.6132914T>G , CM000674.1:g.6132914T>G GRCh37
NC_000012.10:g.6003175T>G NCBI36
NG_009072.1:g.105923A>C
NG_009072.2:g.105923A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3262A>C MANE Select ENSP00000261405.5:p.Thr1088Pro
ENST00000261405.9:c.3262A>C ENSP00000261405.5:p.Thr1088Pro
ENST00000538635.5:n.421-29814A>C
NM_000552.3:c.3262A>C NP_000543.2:p.Thr1088Pro
NM_000552.4:c.3262A>C NP_000543.2:p.Thr1088Pro
NM_000552.5:c.3262A>C MANE Select NP_000543.3:p.Thr1088Pro
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