Canonical Allele Identifier: CA383498464
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6018388-A-G
MyVariant Identifiers: chr12:g.6127554A>G (hg19) chr12:g.6018388A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018388A>G , CM000674.2:g.6018388A>G GRCh38
NC_000012.11:g.6127554A>G , CM000674.1:g.6127554A>G GRCh37
NC_000012.10:g.5997815A>G NCBI36
NG_009072.1:g.111283T>C
NG_009072.2:g.111283T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.5030T>C MANE Select ENSP00000261405.5:p.Ile1677Thr
ENST00000261405.9:c.5030T>C ENSP00000261405.5:p.Ile1677Thr
ENST00000538635.5:n.421-24454T>C
NM_000552.3:c.5030T>C NP_000543.2:p.Ile1677Thr
NM_000552.4:c.5030T>C NP_000543.2:p.Ile1677Thr
NM_000552.5:c.5030T>C MANE Select NP_000543.3:p.Ile1677Thr
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