Canonical Allele Identifier: CA232299423
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs543072528
gnomAD v2: 12-6145256-T-G
gnomAD v3: 12-6036090-T-G
gnomAD v4: 12-6036090-T-G
MyVariant Identifiers: chr12:g.6145256T>G (hg19) chr12:g.6036090T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036090T>G , CM000674.2:g.6036090T>G GRCh38
NC_000012.11:g.6145256T>G , CM000674.1:g.6145256T>G GRCh37
NC_000012.10:g.6015517T>G NCBI36
NG_009072.1:g.93581A>C
NG_009072.2:g.93581A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+298A>C MANE Select ENSP00000261405.5:n.2546+298A>C
ENST00000261405.9:c.2546+298A>C ENSP00000261405.5:n.2546+298A>C
ENST00000538635.5:n.421-42156A>C
NM_000552.3:c.2546+298A>C NP_000543.2:n.2546+298A>C
NM_000552.4:c.2546+298A>C NP_000543.2:n.2546+298A>C
NM_000552.5:c.2546+298A>C MANE Select NP_000543.3:n.2546+298A>C
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