Canonical Allele Identifier: CA478493940
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6127541G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018375G>C , CM000674.2:g.6018375G>C GRCh38
NC_000012.11:g.6127541G>C , CM000674.1:g.6127541G>C GRCh37
NC_000012.10:g.5997802G>C NCBI36
NG_009072.1:g.111296C>G
NG_009072.2:g.111296C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5043C>G MANE Select ENSP00000261405.5:p.Ser1681=
ENST00000261405.9:c.5043C>G ENSP00000261405.5:p.Ser1681=
ENST00000538635.5:n.421-24441C>G
NM_000552.3:c.5043C>G NP_000543.2:p.Ser1681=
NM_000552.4:c.5043C>G NP_000543.2:p.Ser1681=
NM_000552.5:c.5043C>G MANE Select NP_000543.3:p.Ser1681=