Canonical Allele Identifier: CA603101878
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1166408520
gnomAD v2: 12-6140587-G-C
gnomAD v3: 12-6031421-G-C
gnomAD v4: 12-6031421-G-C
MyVariant Identifiers: chr12:g.6140587G>C (hg19) chr12:g.6031421G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031421G>C , CM000674.2:g.6031421G>C GRCh38
NC_000012.11:g.6140587G>C , CM000674.1:g.6140587G>C GRCh37
NC_000012.10:g.6010848G>C NCBI36
NG_009072.1:g.98250C>G
NG_009072.2:g.98250C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2820+23C>G MANE Select ENSP00000261405.5:n.2820+23C>G
ENST00000261405.9:c.2820+23C>G ENSP00000261405.5:n.2820+23C>G
ENST00000538635.5:n.421-37487C>G
NM_000552.3:c.2820+23C>G NP_000543.2:n.2820+23C>G
NM_000552.4:c.2820+23C>G NP_000543.2:n.2820+23C>G
NM_000552.5:c.2820+23C>G MANE Select NP_000543.3:n.2820+23C>G
Search 100 bp 5'
Search 100 bp 3'