Canonical Allele Identifier: CA2559142656
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036053A>G , CM000674.2:g.6036053A>G GRCh38
NC_000012.11:g.6145219A>G , CM000674.1:g.6145219A>G GRCh37
NC_000012.10:g.6015480A>G NCBI36
NG_009072.1:g.93618T>C
NG_009072.2:g.93618T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+335T>C MANE Select ENSP00000261405.5:n.2546+335T>C
ENST00000261405.9:c.2546+335T>C ENSP00000261405.5:n.2546+335T>C
ENST00000538635.5:n.421-42119T>C
NM_000552.3:c.2546+335T>C NP_000543.2:n.2546+335T>C
NM_000552.4:c.2546+335T>C NP_000543.2:n.2546+335T>C
NM_000552.5:c.2546+335T>C MANE Select NP_000543.3:n.2546+335T>C