Canonical Allele Identifier: CA6402308
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs776907516
ExAC: 12:6125435 G / C
gnomAD v2: 12-6125435-G-C
gnomAD v3: 12-6016269-G-C
gnomAD v4: 12-6016269-G-C
MyVariant Identifiers: chr12:g.6125435G>C (hg19) chr12:g.6016269G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016269G>C , CM000674.2:g.6016269G>C GRCh38
NC_000012.11:g.6125435G>C , CM000674.1:g.6125435G>C GRCh37
NC_000012.10:g.5995696G>C NCBI36
NG_009072.1:g.113402C>G
NG_009072.2:g.113402C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5312-37C>G MANE Select ENSP00000261405.5:n.5312-37C>G
ENST00000261405.9:c.5312-37C>G ENSP00000261405.5:n.5312-37C>G
ENST00000538635.5:n.421-22335C>G
NM_000552.3:c.5312-37C>G NP_000543.2:n.5312-37C>G
NM_000552.4:c.5312-37C>G NP_000543.2:n.5312-37C>G
NM_000552.5:c.5312-37C>G MANE Select NP_000543.3:n.5312-37C>G
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