Canonical Allele Identifier: CA6402646
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6019472C>G
GRCh37 chr12:g.6128638C>G
Revel Score:
ENST00000261405 (MANE Select) 0.667
gnomAD v2:
12:6128638 C / G
gnomAD v4:
chr12-6019472-C-G
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
dbSNP:
61749397
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019472C>G , CM000674.2:g.6019472C>G GRCh38
NC_000012.11:g.6128638C>G , CM000674.1:g.6128638C>G GRCh37
NC_000012.10:g.5998899C>G NCBI36
NG_009072.1:g.110199G>C
NG_009072.2:g.110199G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3946G>C MANE Select ENSP00000261405.5:p.Val1316Leu
ENST00000261405.9:c.3946G>C ENSP00000261405.5:p.Val1316Leu
ENST00000538635.5:n.421-25538G>C
NM_000552.3:c.3946G>C NP_000543.2:p.Val1316Leu
NM_000552.4:c.3946G>C NP_000543.2:p.Val1316Leu
NM_000552.5:c.3946G>C MANE Select NP_000543.3:p.Val1316Leu
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