Canonical Allele Identifier: CA383498295
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1204708344
gnomAD v2: 12-6167155-T-C
gnomAD v4: 12-6057989-T-C
MyVariant Identifiers: chr12:g.6167155T>C (hg19) chr12:g.6057989T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057989T>C , CM000674.2:g.6057989T>C GRCh38
NC_000012.11:g.6167155T>C , CM000674.1:g.6167155T>C GRCh37
NC_000012.10:g.6037416T>C NCBI36
NG_009072.1:g.71682A>G
NG_009072.2:g.71682A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1589A>G MANE Select ENSP00000261405.5:p.Asn530Ser
ENST00000261405.9:c.1589A>G ENSP00000261405.5:p.Asn530Ser
ENST00000538635.5:n.420+52526A>G
NM_000552.3:c.1589A>G NP_000543.2:p.Asn530Ser
NM_000552.4:c.1589A>G NP_000543.2:p.Asn530Ser
NM_000552.5:c.1589A>G MANE Select NP_000543.3:p.Asn530Ser
Search 100 bp 5'
Search 100 bp 3'