Canonical Allele Identifier: CA603482946
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1263115309
gnomAD v2: 12-6127501-C-G
gnomAD v4: 12-6018335-C-G
MyVariant Identifiers: chr12:g.6127501C>G (hg19) chr12:g.6018335C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018335C>G , CM000674.2:g.6018335C>G GRCh38
NC_000012.11:g.6127501C>G , CM000674.1:g.6127501C>G GRCh37
NC_000012.10:g.5997762C>G NCBI36
NG_009072.1:g.111336G>C
NG_009072.2:g.111336G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5053+30G>C MANE Select ENSP00000261405.5:n.5053+30G>C
ENST00000261405.9:c.5053+30G>C ENSP00000261405.5:n.5053+30G>C
ENST00000538635.5:n.421-24401G>C
NM_000552.3:c.5053+30G>C NP_000543.2:n.5053+30G>C
NM_000552.4:c.5053+30G>C NP_000543.2:n.5053+30G>C
NM_000552.5:c.5053+30G>C MANE Select NP_000543.3:n.5053+30G>C
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