Canonical Allele Identifier: CA478101714
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1214425511
gnomAD v2: 12-6132942-C-T
gnomAD v4: 12-6023776-C-T
MyVariant Identifiers: chr12:g.6132942C>T (hg19) chr12:g.6023776C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023776C>T , CM000674.2:g.6023776C>T GRCh38
NC_000012.11:g.6132942C>T , CM000674.1:g.6132942C>T GRCh37
NC_000012.10:g.6003203C>T NCBI36
NG_009072.1:g.105895G>A
NG_009072.2:g.105895G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3234G>A MANE Select ENSP00000261405.5:p.Glu1078=
ENST00000261405.9:c.3234G>A ENSP00000261405.5:p.Glu1078=
ENST00000538635.5:n.421-29842G>A
NM_000552.3:c.3234G>A NP_000543.2:p.Glu1078=
NM_000552.4:c.3234G>A NP_000543.2:p.Glu1078=
NM_000552.5:c.3234G>A MANE Select NP_000543.3:p.Glu1078=
Search 100 bp 5'
Search 100 bp 3'