Canonical Allele Identifier: CA383520032
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6034722-A-G
MyVariant Identifiers: chr12:g.6143888A>G (hg19) chr12:g.6034722A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034722A>G , CM000674.2:g.6034722A>G GRCh38
NC_000012.11:g.6143888A>G , CM000674.1:g.6143888A>G GRCh37
NC_000012.10:g.6014149A>G NCBI36
NG_009072.1:g.94949T>C
NG_009072.2:g.94949T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2651T>C MANE Select ENSP00000261405.5:p.Leu884Pro
ENST00000261405.9:c.2651T>C ENSP00000261405.5:p.Leu884Pro
ENST00000538635.5:n.421-40788T>C
NM_000552.3:c.2651T>C NP_000543.2:p.Leu884Pro
NM_000552.4:c.2651T>C NP_000543.2:p.Leu884Pro
NM_000552.5:c.2651T>C MANE Select NP_000543.3:p.Leu884Pro
Search 100 bp 5'
Search 100 bp 3'