Canonical Allele Identifier: CA944316090
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944333242
gnomAD v3: 12-6036068-C-T
gnomAD v4: 12-6036068-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036068C>T , CM000674.2:g.6036068C>T GRCh38
NC_000012.11:g.6145234C>T , CM000674.1:g.6145234C>T GRCh37
NC_000012.10:g.6015495C>T NCBI36
NG_009072.1:g.93603G>A
NG_009072.2:g.93603G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+320G>A MANE Select ENSP00000261405.5:n.2546+320G>A
ENST00000261405.9:c.2546+320G>A ENSP00000261405.5:n.2546+320G>A
ENST00000538635.5:n.421-42134G>A
NM_000552.3:c.2546+320G>A NP_000543.2:n.2546+320G>A
NM_000552.4:c.2546+320G>A NP_000543.2:n.2546+320G>A
NM_000552.5:c.2546+320G>A MANE Select NP_000543.3:n.2546+320G>A
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