Canonical Allele Identifier: CA383505760
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1400256562
gnomAD v2: 12-6128568-T-A
gnomAD v4: 12-6019402-T-A
MyVariant Identifiers: chr12:g.6128568T>A (hg19) chr12:g.6019402T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019402T>A , CM000674.2:g.6019402T>A GRCh38
NC_000012.11:g.6128568T>A , CM000674.1:g.6128568T>A GRCh37
NC_000012.10:g.5998829T>A NCBI36
NG_009072.1:g.110269A>T
NG_009072.2:g.110269A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4016A>T MANE Select ENSP00000261405.5:p.Glu1339Val
ENST00000261405.9:c.4016A>T ENSP00000261405.5:p.Glu1339Val
ENST00000538635.5:n.421-25468A>T
NM_000552.3:c.4016A>T NP_000543.2:p.Glu1339Val
NM_000552.4:c.4016A>T NP_000543.2:p.Glu1339Val
NM_000552.5:c.4016A>T MANE Select NP_000543.3:p.Glu1339Val
Search 100 bp 5'
Search 100 bp 3'