Canonical Allele Identifier: CA690489842

Gene: VWF

Linked Data

• dbSNP Id: rs1448918953
• MyVariant Identifiers: chr12:g.6140900G>T (hg19) ; chr12:g.6031734G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031734G>T , CM000674.2:g.6031734G>T	GRCh38
NC_000012.11:g.6140900G>T , CM000674.1:g.6140900G>T	GRCh37
NC_000012.10:g.6011161G>T	NCBI36
NG_009072.1:g.97937C>A
NG_009072.2:g.97937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2686-156C>A MANE Select	ENSP00000261405.5:n.2686-156C>A
ENST00000261405.9:c.2686-156C>A	ENSP00000261405.5:n.2686-156C>A
ENST00000538635.5:n.421-37800C>A
NM_000552.3:c.2686-156C>A	NP_000543.2:n.2686-156C>A
NM_000552.4:c.2686-156C>A	NP_000543.2:n.2686-156C>A
NM_000552.5:c.2686-156C>A MANE Select	NP_000543.3:n.2686-156C>A