Canonical Allele Identifier: CA228342

Gene: VWF

Linked Data

• ClinVar Variation Id: 100222
• ClinVar RCV Id: RCV000086612 ; RCV001787047
• dbSNP Id: rs61748480
• ExAC: 12:6145658 C / G
• gnomAD v2: 12-6145658-C-G
• gnomAD v4: 12-6036492-C-G
• MyVariant Identifiers: chr12:g.6145658C>G (hg19) ; chr12:g.6036492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6036492C>G , CM000674.2:g.6036492C>G	GRCh38
NC_000012.11:g.6145658C>G , CM000674.1:g.6145658C>G	GRCh37
NC_000012.10:g.6015919C>G	NCBI36
NG_009072.1:g.93179G>C
NG_009072.2:g.93179G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2443-1G>C MANE Select	ENSP00000261405.5:n.2443-1G>C
ENST00000261405.9:c.2443-1G>C	ENSP00000261405.5:n.2443-1G>C
ENST00000538635.5:n.421-42558G>C
NM_000552.3:c.2443-1G>C	NP_000543.2:n.2443-1G>C
NM_000552.4:c.2443-1G>C	NP_000543.2:n.2443-1G>C
NM_000552.5:c.2443-1G>C MANE Select	NP_000543.3:n.2443-1G>C