Canonical Allele Identifier: CA6402693

Gene: VWF

Linked Data

• ClinVar Variation Id: 310068
• ClinVar RCV Id: RCV000327886 ; RCV001284371
• dbSNP Id: rs150576611
• ExAC: 12:6128865 G / A
• gnomAD v2: 12-6128865-G-A
• gnomAD v3: 12-6019699-G-A
• gnomAD v4: 12-6019699-G-A
• MyVariant Identifiers: chr12:g.6128865G>A (hg19) ; chr12:g.6019699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019699G>A , CM000674.2:g.6019699G>A	GRCh38
NC_000012.11:g.6128865G>A , CM000674.1:g.6128865G>A	GRCh37
NC_000012.10:g.5999126G>A	NCBI36
NG_009072.1:g.109972C>T
NG_009072.2:g.109972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3719C>T MANE Select	ENSP00000261405.5:p.Pro1240Leu
ENST00000261405.9:c.3719C>T	ENSP00000261405.5:p.Pro1240Leu
ENST00000538635.5:n.421-25765C>T
ENST00000539641.1:n.517C>T
NM_000552.3:c.3719C>T	NP_000543.2:p.Pro1240Leu
NM_000552.4:c.3719C>T	NP_000543.2:p.Pro1240Leu
NM_000552.5:c.3719C>T MANE Select	NP_000543.3:p.Pro1240Leu