Canonical Allele Identifier: CA383499085
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018600C>G , CM000674.2:g.6018600C>G GRCh38
NC_000012.11:g.6127766C>G , CM000674.1:g.6127766C>G GRCh37
NC_000012.10:g.5998027C>G NCBI36
NG_009072.1:g.111071G>C
NG_009072.2:g.111071G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4818G>C MANE Select ENSP00000261405.5:p.Met1606Ile
ENST00000261405.9:c.4818G>C ENSP00000261405.5:p.Met1606Ile
ENST00000538635.5:n.421-24666G>C
NM_000552.3:c.4818G>C NP_000543.2:p.Met1606Ile
NM_000552.4:c.4818G>C NP_000543.2:p.Met1606Ile
NM_000552.5:c.4818G>C MANE Select NP_000543.3:p.Met1606Ile