Canonical Allele Identifier: CA690482972

Gene: VWF

Linked Data

• dbSNP Id: rs1446997822
• gnomAD v4: 12-6023890-G-A
• MyVariant Identifiers: chr12:g.6133056G>A (hg19) ; chr12:g.6023890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023890G>A , CM000674.2:g.6023890G>A	GRCh38
NC_000012.11:g.6133056G>A , CM000674.1:g.6133056G>A	GRCh37
NC_000012.10:g.6003317G>A	NCBI36
NG_009072.1:g.105781C>T
NG_009072.2:g.105781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3223-103C>T MANE Select	ENSP00000261405.5:n.3223-103C>T
ENST00000261405.9:c.3223-103C>T	ENSP00000261405.5:n.3223-103C>T
ENST00000538635.5:n.421-29956C>T
NM_000552.3:c.3223-103C>T	NP_000543.2:n.3223-103C>T
NM_000552.4:c.3223-103C>T	NP_000543.2:n.3223-103C>T
NM_000552.5:c.3223-103C>T MANE Select	NP_000543.3:n.3223-103C>T