Canonical Allele Identifier: CA383512224
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6023728-A-C
MyVariant Identifiers: chr12:g.6132894A>C (hg19) chr12:g.6023728A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023728A>C , CM000674.2:g.6023728A>C GRCh38
NC_000012.11:g.6132894A>C , CM000674.1:g.6132894A>C GRCh37
NC_000012.10:g.6003155A>C NCBI36
NG_009072.1:g.105943T>G
NG_009072.2:g.105943T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3282T>G MANE Select ENSP00000261405.5:p.Ile1094Met
ENST00000261405.9:c.3282T>G ENSP00000261405.5:p.Ile1094Met
ENST00000538635.5:n.421-29794T>G
NM_000552.3:c.3282T>G NP_000543.2:p.Ile1094Met
NM_000552.4:c.3282T>G NP_000543.2:p.Ile1094Met
NM_000552.5:c.3282T>G MANE Select NP_000543.3:p.Ile1094Met
Search 100 bp 5'
Search 100 bp 3'