Canonical Allele Identifier: CA2590962784
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs2136416920
gnomAD v3: 12-6022205-G-C
gnomAD v4: 12-6022205-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6022205G>C , CM000674.2:g.6022205G>C GRCh38
NC_000012.11:g.6131371G>C , CM000674.1:g.6131371G>C GRCh37
NC_000012.10:g.6001632G>C NCBI36
NG_009072.1:g.107466C>G
NG_009072.2:g.107466C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3539-170C>G MANE Select ENSP00000261405.5:n.3539-170C>G
ENST00000261405.9:c.3539-170C>G ENSP00000261405.5:n.3539-170C>G
ENST00000538635.5:n.421-28271C>G
NM_000552.3:c.3539-170C>G NP_000543.2:n.3539-170C>G
NM_000552.4:c.3539-170C>G NP_000543.2:n.3539-170C>G
NM_000552.5:c.3539-170C>G MANE Select NP_000543.3:n.3539-170C>G
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