Canonical Allele Identifier: CA383520025
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1478584971
gnomAD v2: 12-6143884-G-C
gnomAD v4: 12-6034718-G-C
MyVariant Identifiers: chr12:g.6143884G>C (hg19) chr12:g.6034718G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6034718G>C , CM000674.2:g.6034718G>C GRCh38
NC_000012.11:g.6143884G>C , CM000674.1:g.6143884G>C GRCh37
NC_000012.10:g.6014145G>C NCBI36
NG_009072.1:g.94953C>G
NG_009072.2:g.94953C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2655C>G MANE Select ENSP00000261405.5:p.Phe885Leu
ENST00000261405.9:c.2655C>G ENSP00000261405.5:p.Phe885Leu
ENST00000538635.5:n.421-40784C>G
NM_000552.3:c.2655C>G NP_000543.2:p.Phe885Leu
NM_000552.4:c.2655C>G NP_000543.2:p.Phe885Leu
NM_000552.5:c.2655C>G MANE Select NP_000543.3:p.Phe885Leu
Search 100 bp 5'
Search 100 bp 3'