Canonical Allele Identifier: CA383506232
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1265932750
gnomAD v2: 12-6128670-T-G
gnomAD v4: 12-6019504-T-G
MyVariant Identifiers: chr12:g.6128670T>G (hg19) chr12:g.6019504T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019504T>G , CM000674.2:g.6019504T>G GRCh38
NC_000012.11:g.6128670T>G , CM000674.1:g.6128670T>G GRCh37
NC_000012.10:g.5998931T>G NCBI36
NG_009072.1:g.110167A>C
NG_009072.2:g.110167A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3914A>C MANE Select ENSP00000261405.5:p.Glu1305Ala
ENST00000261405.9:c.3914A>C ENSP00000261405.5:p.Glu1305Ala
ENST00000538635.5:n.421-25570A>C
NM_000552.3:c.3914A>C NP_000543.2:p.Glu1305Ala
NM_000552.4:c.3914A>C NP_000543.2:p.Glu1305Ala
NM_000552.5:c.3914A>C MANE Select NP_000543.3:p.Glu1305Ala
Search 100 bp 5'
Search 100 bp 3'