Canonical Allele Identifier: CA6402449
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs778176378
ExAC: 12:6127736 G / A
gnomAD v2: 12-6127736-G-A
gnomAD v3: 12-6018570-G-A
gnomAD v4: 12-6018570-G-A
COSMIC: COSM4496860
MyVariant Identifiers: chr12:g.6127736G>A (hg19) chr12:g.6018570G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018570G>A , CM000674.2:g.6018570G>A GRCh38
NC_000012.11:g.6127736G>A , CM000674.1:g.6127736G>A GRCh37
NC_000012.10:g.5997997G>A NCBI36
NG_009072.1:g.111101C>T
NG_009072.2:g.111101C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4848C>T MANE Select ENSP00000261405.5:p.Ile1616=
ENST00000261405.9:c.4848C>T ENSP00000261405.5:p.Ile1616=
ENST00000538635.5:n.421-24636C>T
NM_000552.3:c.4848C>T NP_000543.2:p.Ile1616=
NM_000552.4:c.4848C>T NP_000543.2:p.Ile1616=
NM_000552.5:c.4848C>T MANE Select NP_000543.3:p.Ile1616=
Search 100 bp 5'
Search 100 bp 3'