Canonical Allele Identifier: CA232281419
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs759321940
MyVariant Identifiers: chr12:g.5968914G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5968914G>C , CM000674.2:g.5968914G>C GRCh38
NC_000012.11:g.6078080G>C , CM000674.1:g.6078080G>C GRCh37
NC_000012.10:g.5948341G>C NCBI36
NG_009072.1:g.160757C>G
NG_009072.2:g.160757C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.7729+297C>G MANE Select ENSP00000261405.5:n.7729+297C>G
ENST00000261405.9:c.7729+297C>G ENSP00000261405.5:n.7729+297C>G
NM_000552.3:c.7729+297C>G NP_000543.2:n.7729+297C>G
NM_000552.4:c.7729+297C>G NP_000543.2:n.7729+297C>G
NM_000552.5:c.7729+297C>G MANE Select NP_000543.3:n.7729+297C>G