Canonical Allele Identifier: CA383511798
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1184092848
gnomAD v2: 12-6132802-A-C
gnomAD v4: 12-6023636-A-C
MyVariant Identifiers: chr12:g.6132802A>C (hg19) chr12:g.6023636A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023636A>C , CM000674.2:g.6023636A>C GRCh38
NC_000012.11:g.6132802A>C , CM000674.1:g.6132802A>C GRCh37
NC_000012.10:g.6003063A>C NCBI36
NG_009072.1:g.106035T>G
NG_009072.2:g.106035T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3374T>G MANE Select ENSP00000261405.5:p.Leu1125Trp
ENST00000261405.9:c.3374T>G ENSP00000261405.5:p.Leu1125Trp
ENST00000538635.5:n.421-29702T>G
NM_000552.3:c.3374T>G NP_000543.2:p.Leu1125Trp
NM_000552.4:c.3374T>G NP_000543.2:p.Leu1125Trp
NM_000552.5:c.3374T>G MANE Select NP_000543.3:p.Leu1125Trp
Search 100 bp 5'
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