Canonical Allele Identifier: CA383512290
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6132923T>G (hg19) chr12:g.6023757T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023757T>G , CM000674.2:g.6023757T>G GRCh38
NC_000012.11:g.6132923T>G , CM000674.1:g.6132923T>G GRCh37
NC_000012.10:g.6003184T>G NCBI36
NG_009072.1:g.105914A>C
NG_009072.2:g.105914A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3253A>C MANE Select ENSP00000261405.5:p.Ile1085Leu
ENST00000261405.9:c.3253A>C ENSP00000261405.5:p.Ile1085Leu
ENST00000538635.5:n.421-29823A>C
NM_000552.3:c.3253A>C NP_000543.2:p.Ile1085Leu
NM_000552.4:c.3253A>C NP_000543.2:p.Ile1085Leu
NM_000552.5:c.3253A>C MANE Select NP_000543.3:p.Ile1085Leu
Search 100 bp 5'
Search 100 bp 3'