Canonical Allele Identifier: CA6402737
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs3741908
ExAC: 12:6131182 A / C
gnomAD v2: 12-6131182-A-C
gnomAD v3: 12-6022016-A-C
gnomAD v4: 12-6022016-A-C
MyVariant Identifiers: chr12:g.6131182A>C (hg19) chr12:g.6022016A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6022016A>C , CM000674.2:g.6022016A>C GRCh38
NC_000012.11:g.6131182A>C , CM000674.1:g.6131182A>C GRCh37
NC_000012.10:g.6001443A>C NCBI36
NG_009072.1:g.107655T>G
NG_009072.2:g.107655T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3558T>G MANE Select ENSP00000261405.5:p.Leu1186=
ENST00000261405.9:c.3558T>G ENSP00000261405.5:p.Leu1186=
ENST00000538635.5:n.421-28082T>G
NM_000552.3:c.3558T>G NP_000543.2:p.Leu1186=
NM_000552.4:c.3558T>G NP_000543.2:p.Leu1186=
NM_000552.5:c.3558T>G MANE Select NP_000543.3:p.Leu1186=
Search 100 bp 5'
Search 100 bp 3'