Canonical Allele Identifier: CA383512319
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6132936A>C (hg19) chr12:g.6023770A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023770A>C , CM000674.2:g.6023770A>C GRCh38
NC_000012.11:g.6132936A>C , CM000674.1:g.6132936A>C GRCh37
NC_000012.10:g.6003197A>C NCBI36
NG_009072.1:g.105901T>G
NG_009072.2:g.105901T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3240T>G MANE Select ENSP00000261405.5:p.Tyr1080Ter
ENST00000261405.9:c.3240T>G ENSP00000261405.5:p.Tyr1080Ter
ENST00000538635.5:n.421-29836T>G
NM_000552.3:c.3240T>G NP_000543.2:p.Tyr1080Ter
NM_000552.4:c.3240T>G NP_000543.2:p.Tyr1080Ter
NM_000552.5:c.3240T>G MANE Select NP_000543.3:p.Tyr1080Ter
Search 100 bp 5'
Search 100 bp 3'