Canonical Allele Identifier: CA228808

Gene: VWF

Linked Data

• ClinVar Variation Id: 100479
• ClinVar RCV Id: RCV000086893 ; RCV001787075
• dbSNP Id: rs61751297
• gnomAD v4: 12-5969310-G-A
• MyVariant Identifiers: chr12:g.6078476G>A (hg19) ; chr12:g.5969310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5969310G>A , CM000674.2:g.5969310G>A	GRCh38
NC_000012.11:g.6078476G>A , CM000674.1:g.6078476G>A	GRCh37
NC_000012.10:g.5948737G>A	NCBI36
NG_009072.1:g.160361C>T
NG_009072.2:g.160361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7630C>T MANE Select	ENSP00000261405.5:p.Gln2544Ter
ENST00000261405.9:c.7630C>T	ENSP00000261405.5:p.Gln2544Ter
NM_000552.3:c.7630C>T	NP_000543.2:p.Gln2544Ter
NM_000552.4:c.7630C>T	NP_000543.2:p.Gln2544Ter
NM_000552.5:c.7630C>T MANE Select	NP_000543.3:p.Gln2544Ter