Canonical Allele Identifier: CA690493019
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1451562527
gnomAD v3: 12-6036291-G-A
gnomAD v4: 12-6036291-G-A
MyVariant Identifiers: chr12:g.6145457G>A (hg19) chr12:g.6036291G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036291G>A , CM000674.2:g.6036291G>A GRCh38
NC_000012.11:g.6145457G>A , CM000674.1:g.6145457G>A GRCh37
NC_000012.10:g.6015718G>A NCBI36
NG_009072.1:g.93380C>T
NG_009072.2:g.93380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+97C>T MANE Select ENSP00000261405.5:n.2546+97C>T
ENST00000261405.9:c.2546+97C>T ENSP00000261405.5:n.2546+97C>T
ENST00000538635.5:n.421-42357C>T
NM_000552.3:c.2546+97C>T NP_000543.2:n.2546+97C>T
NM_000552.4:c.2546+97C>T NP_000543.2:n.2546+97C>T
NM_000552.5:c.2546+97C>T MANE Select NP_000543.3:n.2546+97C>T
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