Canonical Allele Identifier: CA6402443
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs778661133
ExAC: 12:6127680 T / A
gnomAD v2: 12-6127680-T-A
gnomAD v4: 12-6018514-T-A
MyVariant Identifiers: chr12:g.6127680T>A (hg19) chr12:g.6018514T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4904A>T MANE Select ENSP00000261405.5:p.Asn1635Ile
ENST00000261405.9:c.4904A>T ENSP00000261405.5:p.Asn1635Ile
ENST00000538635.5:n.421-24580A>T
NM_000552.3:c.4904A>T NP_000543.2:p.Asn1635Ile
NM_000552.4:c.4904A>T NP_000543.2:p.Asn1635Ile
NM_000552.5:c.4904A>T MANE Select NP_000543.3:p.Asn1635Ile
Search 100 bp 5'
Search 100 bp 3'