Canonical Allele Identifier: CA6403320
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs765922774
ExAC: 12:6167120 C / T
gnomAD v2: 12-6167120-C-T
gnomAD v4: 12-6057954-C-T
MyVariant Identifiers: chr12:g.6167120C>T (hg19) chr12:g.6057954C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057954C>T , CM000674.2:g.6057954C>T GRCh38
NC_000012.11:g.6167120C>T , CM000674.1:g.6167120C>T GRCh37
NC_000012.10:g.6037381C>T NCBI36
NG_009072.1:g.71717G>A
NG_009072.2:g.71717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1624G>A MANE Select ENSP00000261405.5:p.Ala542Thr
ENST00000261405.9:c.1624G>A ENSP00000261405.5:p.Ala542Thr
ENST00000538635.5:n.420+52561G>A
NM_000552.3:c.1624G>A NP_000543.2:p.Ala542Thr
NM_000552.4:c.1624G>A NP_000543.2:p.Ala542Thr
NM_000552.5:c.1624G>A MANE Select NP_000543.3:p.Ala542Thr
Search 100 bp 5'
Search 100 bp 3'