Canonical Allele Identifier: CA383506463
Community Standard Title: NM_000552.5(VWF):c.3890A>C (p.Lys1297Thr)
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019528T>G , CM000674.2:g.6019528T>G GRCh38
NC_000012.11:g.6128694T>G , CM000674.1:g.6128694T>G GRCh37
NC_000012.10:g.5998955T>G NCBI36
NG_009072.1:g.110143A>C
NG_009072.2:g.110143A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000552.5:c.3890A>C MANE Select NP_000543.3:p.Lys1297Thr
ENST00000261405.10:c.3890A>C MANE Select ENSP00000261405.5:p.Lys1297Thr
NM_000552.3:c.3890A>C NP_000543.2:p.Lys1297Thr
NM_000552.4:c.3890A>C NP_000543.2:p.Lys1297Thr
ENST00000261405.9:c.3890A>C ENSP00000261405.5:p.Lys1297Thr
ENST00000538635.5:n.421-25594A>C
ENST00000539641.1:n.688A>C