Canonical Allele Identifier: CA6402717

Gene: VWF

Linked Data

• dbSNP Id: rs778687276
• ExAC: 12:6131052 G / C
• gnomAD v2: 12-6131052-G-C
• gnomAD v4: 12-6021886-G-C
• MyVariant Identifiers: chr12:g.6131052G>C (hg19) ; chr12:g.6021886G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6021886G>C , CM000674.2:g.6021886G>C	GRCh38
NC_000012.11:g.6131052G>C , CM000674.1:g.6131052G>C	GRCh37
NC_000012.10:g.6001313G>C	NCBI36
NG_009072.1:g.107785C>G
NG_009072.2:g.107785C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.3674+14C>G MANE Select	ENSP00000261405.5:n.3674+14C>G
ENST00000261405.9:c.3674+14C>G	ENSP00000261405.5:n.3674+14C>G
ENST00000538635.5:n.421-27952C>G
ENST00000539641.1:n.27+14C>G
NM_000552.3:c.3674+14C>G	NP_000543.2:n.3674+14C>G
NM_000552.4:c.3674+14C>G	NP_000543.2:n.3674+14C>G
NM_000552.5:c.3674+14C>G MANE Select	NP_000543.3:n.3674+14C>G