Canonical Allele Identifier: CA383512282
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6132919T>G (hg19) chr12:g.6023753T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023753T>G , CM000674.2:g.6023753T>G GRCh38
NC_000012.11:g.6132919T>G , CM000674.1:g.6132919T>G GRCh37
NC_000012.10:g.6003180T>G NCBI36
NG_009072.1:g.105918A>C
NG_009072.2:g.105918A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3257A>C MANE Select ENSP00000261405.5:p.Tyr1086Ser
ENST00000261405.9:c.3257A>C ENSP00000261405.5:p.Tyr1086Ser
ENST00000538635.5:n.421-29819A>C
NM_000552.3:c.3257A>C NP_000543.2:p.Tyr1086Ser
NM_000552.4:c.3257A>C NP_000543.2:p.Tyr1086Ser
NM_000552.5:c.3257A>C MANE Select NP_000543.3:p.Tyr1086Ser
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