Canonical Allele Identifier: CA383498726
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6127680T>C (hg19) chr12:g.6018514T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018514T>C , CM000674.2:g.6018514T>C GRCh38
NC_000012.11:g.6127680T>C , CM000674.1:g.6127680T>C GRCh37
NC_000012.10:g.5997941T>C NCBI36
NG_009072.1:g.111157A>G
NG_009072.2:g.111157A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4904A>G MANE Select ENSP00000261405.5:p.Asn1635Ser
ENST00000261405.9:c.4904A>G ENSP00000261405.5:p.Asn1635Ser
ENST00000538635.5:n.421-24580A>G
NM_000552.3:c.4904A>G NP_000543.2:p.Asn1635Ser
NM_000552.4:c.4904A>G NP_000543.2:p.Asn1635Ser
NM_000552.5:c.4904A>G MANE Select NP_000543.3:p.Asn1635Ser
Search 100 bp 5'
Search 100 bp 3'