Canonical Allele Identifier: CA603483042

Gene: VWF

Linked Data

• dbSNP Id: rs1301925061
• gnomAD v2: 12-6132742-T-C
• gnomAD v3: 12-6023576-T-C
• gnomAD v4: 12-6023576-T-C
• MyVariant Identifiers: chr12:g.6132742T>C (hg19) ; chr12:g.6023576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023576T>C , CM000674.2:g.6023576T>C	GRCh38
NC_000012.11:g.6132742T>C , CM000674.1:g.6132742T>C	GRCh37
NC_000012.10:g.6003003T>C	NCBI36
NG_009072.1:g.106095A>G
NG_009072.2:g.106095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3379+55A>G MANE Select	ENSP00000261405.5:n.3379+55A>G
ENST00000261405.9:c.3379+55A>G	ENSP00000261405.5:n.3379+55A>G
ENST00000538635.5:n.421-29642A>G
NM_000552.3:c.3379+55A>G	NP_000543.2:n.3379+55A>G
NM_000552.4:c.3379+55A>G	NP_000543.2:n.3379+55A>G
NM_000552.5:c.3379+55A>G MANE Select	NP_000543.3:n.3379+55A>G