Canonical Allele Identifier: CA944316069
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944332915
gnomAD v3: 12-6036041-A-C
gnomAD v4: 12-6036041-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036041A>C , CM000674.2:g.6036041A>C GRCh38
NC_000012.11:g.6145207A>C , CM000674.1:g.6145207A>C GRCh37
NC_000012.10:g.6015468A>C NCBI36
NG_009072.1:g.93630T>G
NG_009072.2:g.93630T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+347T>G MANE Select ENSP00000261405.5:n.2546+347T>G
ENST00000261405.9:c.2546+347T>G ENSP00000261405.5:n.2546+347T>G
ENST00000538635.5:n.421-42107T>G
NM_000552.3:c.2546+347T>G NP_000543.2:n.2546+347T>G
NM_000552.4:c.2546+347T>G NP_000543.2:n.2546+347T>G
NM_000552.5:c.2546+347T>G MANE Select NP_000543.3:n.2546+347T>G