Canonical Allele Identifier: CA6401365
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5949879C>T
GRCh37 chr12:g.6059045C>T
gnomAD v2:
12:6059045 C / T
gnomAD v3:
12:5949879 C / T
gnomAD v4:
chr12-5949879-C-T
Joint Max Group AF 0.00037634 (NFE)
Genomes Max Group AF 0.00014675 (NFE)
Exomes Max Group AF 0.00038583 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5949879C>T , CM000674.2:g.5949879C>T GRCh38
NC_000012.11:g.6059045C>T , CM000674.1:g.6059045C>T GRCh37
NC_000012.10:g.5929306C>T NCBI36
NG_009072.1:g.179792G>A
NG_009072.2:g.179792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.8160G>A MANE Select ENSP00000261405.5:p.Glu2720=
ENST00000261405.9:c.8160G>A ENSP00000261405.5:p.Glu2720=
NM_000552.3:c.8160G>A NP_000543.2:p.Glu2720=
NM_000552.4:c.8160G>A NP_000543.2:p.Glu2720=
NM_000552.5:c.8160G>A MANE Select NP_000543.3:p.Glu2720=
Search 100 bp 5'
Search 100 bp 3'