Canonical Allele Identifier: CA383512205
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs149895348
gnomAD v2: 12-6132885-G-C
gnomAD v4: 12-6023719-G-C
MyVariant Identifiers: chr12:g.6132885G>C (hg19) chr12:g.6023719G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023719G>C , CM000674.2:g.6023719G>C GRCh38
NC_000012.11:g.6132885G>C , CM000674.1:g.6132885G>C GRCh37
NC_000012.10:g.6003146G>C NCBI36
NG_009072.1:g.105952C>G
NG_009072.2:g.105952C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3291C>G MANE Select ENSP00000261405.5:p.Cys1097Trp
ENST00000261405.9:c.3291C>G ENSP00000261405.5:p.Cys1097Trp
ENST00000538635.5:n.421-29785C>G
NM_000552.3:c.3291C>G NP_000543.2:p.Cys1097Trp
NM_000552.4:c.3291C>G NP_000543.2:p.Cys1097Trp
NM_000552.5:c.3291C>G MANE Select NP_000543.3:p.Cys1097Trp
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