Canonical Allele Identifier: CA603483088

Gene: VWF

Linked Data

• dbSNP Id: rs1230630252
• gnomAD v2: 12-6133033-T-C
• gnomAD v3: 12-6023867-T-C
• gnomAD v4: 12-6023867-T-C
• MyVariant Identifiers: chr12:g.6133033T>C (hg19) ; chr12:g.6023867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023867T>C , CM000674.2:g.6023867T>C	GRCh38
NC_000012.11:g.6133033T>C , CM000674.1:g.6133033T>C	GRCh37
NC_000012.10:g.6003294T>C	NCBI36
NG_009072.1:g.105804A>G
NG_009072.2:g.105804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3223-80A>G MANE Select	ENSP00000261405.5:n.3223-80A>G
ENST00000261405.9:c.3223-80A>G	ENSP00000261405.5:n.3223-80A>G
ENST00000538635.5:n.421-29933A>G
NM_000552.3:c.3223-80A>G	NP_000543.2:n.3223-80A>G
NM_000552.4:c.3223-80A>G	NP_000543.2:n.3223-80A>G
NM_000552.5:c.3223-80A>G MANE Select	NP_000543.3:n.3223-80A>G