Canonical Allele Identifier: CA690569121
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1400125632
gnomAD v3: 12-6058152-A-C
gnomAD v4: 12-6058152-A-C
MyVariant Identifiers: chr12:g.6167318A>C (hg19) chr12:g.6058152A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058152A>C , CM000674.2:g.6058152A>C GRCh38
NC_000012.11:g.6167318A>C , CM000674.1:g.6167318A>C GRCh37
NC_000012.10:g.6037579A>C NCBI36
NG_009072.1:g.71519T>G
NG_009072.2:g.71519T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-108T>G MANE Select ENSP00000261405.5:n.1534-108T>G
ENST00000261405.9:c.1534-108T>G ENSP00000261405.5:n.1534-108T>G
ENST00000538635.5:n.420+52363T>G
NM_000552.3:c.1534-108T>G NP_000543.2:n.1534-108T>G
NM_000552.4:c.1534-108T>G NP_000543.2:n.1534-108T>G
NM_000552.5:c.1534-108T>G MANE Select NP_000543.3:n.1534-108T>G
Search 100 bp 5'
Search 100 bp 3'