Canonical Allele Identifier: CA383499177
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6127779T>G (hg19) chr12:g.6018613T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018613T>G , CM000674.2:g.6018613T>G GRCh38
NC_000012.11:g.6127779T>G , CM000674.1:g.6127779T>G GRCh37
NC_000012.10:g.5998040T>G NCBI36
NG_009072.1:g.111058A>C
NG_009072.2:g.111058A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4805A>C MANE Select ENSP00000261405.5:p.Asn1602Thr
ENST00000261405.9:c.4805A>C ENSP00000261405.5:p.Asn1602Thr
ENST00000538635.5:n.421-24679A>C
NM_000552.3:c.4805A>C NP_000543.2:p.Asn1602Thr
NM_000552.4:c.4805A>C NP_000543.2:p.Asn1602Thr
NM_000552.5:c.4805A>C MANE Select NP_000543.3:p.Asn1602Thr
Search 100 bp 5'
Search 100 bp 3'