Canonical Allele Identifier: CA383499178

Gene: VWF

Linked Data

• gnomAD v4: 12-6018613-T-C
• MyVariant Identifiers: chr12:g.6127779T>C (hg19) ; chr12:g.6018613T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018613T>C , CM000674.2:g.6018613T>C	GRCh38
NC_000012.11:g.6127779T>C , CM000674.1:g.6127779T>C	GRCh37
NC_000012.10:g.5998040T>C	NCBI36
NG_009072.1:g.111058A>G
NG_009072.2:g.111058A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.4805A>G MANE Select	ENSP00000261405.5:p.Asn1602Ser
ENST00000261405.9:c.4805A>G	ENSP00000261405.5:p.Asn1602Ser
ENST00000538635.5:n.421-24679A>G
NM_000552.3:c.4805A>G	NP_000543.2:p.Asn1602Ser
NM_000552.4:c.4805A>G	NP_000543.2:p.Asn1602Ser
NM_000552.5:c.4805A>G MANE Select	NP_000543.3:p.Asn1602Ser