Canonical Allele Identifier: CA944316075
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1021829949
gnomAD v3: 12-6036045-T-G
gnomAD v4: 12-6036045-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036045T>G , CM000674.2:g.6036045T>G GRCh38
NC_000012.11:g.6145211T>G , CM000674.1:g.6145211T>G GRCh37
NC_000012.10:g.6015472T>G NCBI36
NG_009072.1:g.93626A>C
NG_009072.2:g.93626A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+343A>C MANE Select ENSP00000261405.5:n.2546+343A>C
ENST00000261405.9:c.2546+343A>C ENSP00000261405.5:n.2546+343A>C
ENST00000538635.5:n.421-42111A>C
NM_000552.3:c.2546+343A>C NP_000543.2:n.2546+343A>C
NM_000552.4:c.2546+343A>C NP_000543.2:n.2546+343A>C
NM_000552.5:c.2546+343A>C MANE Select NP_000543.3:n.2546+343A>C
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