Canonical Allele Identifier: CA383517916
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031543G>C , CM000674.2:g.6031543G>C GRCh38
NC_000012.11:g.6140709G>C , CM000674.1:g.6140709G>C GRCh37
NC_000012.10:g.6010970G>C NCBI36
NG_009072.1:g.98128C>G
NG_009072.2:g.98128C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2721C>G MANE Select ENSP00000261405.5:p.Ile907Met
ENST00000261405.9:c.2721C>G ENSP00000261405.5:p.Ile907Met
ENST00000538635.5:n.421-37609C>G
NM_000552.3:c.2721C>G NP_000543.2:p.Ile907Met
NM_000552.4:c.2721C>G NP_000543.2:p.Ile907Met
NM_000552.5:c.2721C>G MANE Select NP_000543.3:p.Ile907Met