Canonical Allele Identifier: CA383512329
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023775G>A , CM000674.2:g.6023775G>A GRCh38
NC_000012.11:g.6132941G>A , CM000674.1:g.6132941G>A GRCh37
NC_000012.10:g.6003202G>A NCBI36
NG_009072.1:g.105896C>T
NG_009072.2:g.105896C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3235C>T MANE Select ENSP00000261405.5:p.Pro1079Ser
ENST00000261405.9:c.3235C>T ENSP00000261405.5:p.Pro1079Ser
ENST00000538635.5:n.421-29841C>T
NM_000552.3:c.3235C>T NP_000543.2:p.Pro1079Ser
NM_000552.4:c.3235C>T NP_000543.2:p.Pro1079Ser
NM_000552.5:c.3235C>T MANE Select NP_000543.3:p.Pro1079Ser