Canonical Allele Identifier: CA6402624
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 619749
ClinVar RCV Id: RCV000759396
dbSNP Id: rs771464323
ExAC: 12:6128572 A / C
gnomAD v2: 12-6128572-A-C
gnomAD v3: 12-6019406-A-C
gnomAD v4: 12-6019406-A-C
MyVariant Identifiers: chr12:g.6128572A>C (hg19) chr12:g.6019406A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019406A>C , CM000674.2:g.6019406A>C GRCh38
NC_000012.11:g.6128572A>C , CM000674.1:g.6128572A>C GRCh37
NC_000012.10:g.5998833A>C NCBI36
NG_009072.1:g.110265T>G
NG_009072.2:g.110265T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4012T>G MANE Select ENSP00000261405.5:p.Ser1338Ala
ENST00000261405.9:c.4012T>G ENSP00000261405.5:p.Ser1338Ala
ENST00000538635.5:n.421-25472T>G
NM_000552.3:c.4012T>G NP_000543.2:p.Ser1338Ala
NM_000552.4:c.4012T>G NP_000543.2:p.Ser1338Ala
NM_000552.5:c.4012T>G MANE Select NP_000543.3:p.Ser1338Ala
Search 100 bp 5'
Search 100 bp 3'