Canonical Allele Identifier: CA383498741

Gene: VWF

Linked Data

• gnomAD v4: 12-6018520-T-G
• MyVariant Identifiers: chr12:g.6127686T>G (hg19) ; chr12:g.6018520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018520T>G , CM000674.2:g.6018520T>G	GRCh38
NC_000012.11:g.6127686T>G , CM000674.1:g.6127686T>G	GRCh37
NC_000012.10:g.5997947T>G	NCBI36
NG_009072.1:g.111151A>C
NG_009072.2:g.111151A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.4898A>C MANE Select	ENSP00000261405.5:p.Asn1633Thr
ENST00000261405.9:c.4898A>C	ENSP00000261405.5:p.Asn1633Thr
ENST00000538635.5:n.421-24586A>C
NM_000552.3:c.4898A>C	NP_000543.2:p.Asn1633Thr
NM_000552.4:c.4898A>C	NP_000543.2:p.Asn1633Thr
NM_000552.5:c.4898A>C MANE Select	NP_000543.3:p.Asn1633Thr