Canonical Allele Identifier: CA478502382
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6128573C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019407C>A , CM000674.2:g.6019407C>A GRCh38
NC_000012.11:g.6128573C>A , CM000674.1:g.6128573C>A GRCh37
NC_000012.10:g.5998834C>A NCBI36
NG_009072.1:g.110264G>T
NG_009072.2:g.110264G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4011G>T MANE Select ENSP00000261405.5:p.Pro1337=
ENST00000261405.9:c.4011G>T ENSP00000261405.5:p.Pro1337=
ENST00000538635.5:n.421-25473G>T
NM_000552.3:c.4011G>T NP_000543.2:p.Pro1337=
NM_000552.4:c.4011G>T NP_000543.2:p.Pro1337=
NM_000552.5:c.4011G>T MANE Select NP_000543.3:p.Pro1337=