Canonical Allele Identifier: CA228760

Gene: VWF

Linked Data

• ClinVar Variation Id: 100450
• ClinVar RCV Id: RCV000086862 ; RCV000765102 ; RCV002265605 ; RCV003387761
• dbSNP Id: rs61750625
• ExAC: 12:6094771 G / A
• gnomAD v2: 12-6094771-G-A
• gnomAD v3: 12-5985605-G-A
• gnomAD v4: 12-5985605-G-A
• MyVariant Identifiers: chr12:g.6094771G>A (hg19) ; chr12:g.5985605G>A (hg38)
• ERepo: CA228760/MONDO:0019565/090

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5985605G>A , CM000674.2:g.5985605G>A	GRCh38
NC_000012.11:g.6094771G>A , CM000674.1:g.6094771G>A	GRCh37
NC_000012.10:g.5965032G>A	NCBI36
NG_009072.1:g.144066C>T
NG_009072.2:g.144066C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.6859C>T MANE Select	ENSP00000261405.5:p.Arg2287Trp
ENST00000261405.9:c.6859C>T	ENSP00000261405.5:p.Arg2287Trp
NM_000552.3:c.6859C>T	NP_000543.2:p.Arg2287Trp
NM_000552.4:c.6859C>T	NP_000543.2:p.Arg2287Trp
NM_000552.5:c.6859C>T MANE Select	NP_000543.3:p.Arg2287Trp