Canonical Allele Identifier: CA6402721
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs746935137
ExAC: 12:6131086 G / C
gnomAD v2: 12-6131086-G-C
gnomAD v4: 12-6021920-G-C
MyVariant Identifiers: chr12:g.6131086G>C (hg19) chr12:g.6021920G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021920G>C , CM000674.2:g.6021920G>C GRCh38
NC_000012.11:g.6131086G>C , CM000674.1:g.6131086G>C GRCh37
NC_000012.10:g.6001347G>C NCBI36
NG_009072.1:g.107751C>G
NG_009072.2:g.107751C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3654C>G MANE Select ENSP00000261405.5:p.Asp1218Glu
ENST00000261405.9:c.3654C>G ENSP00000261405.5:p.Asp1218Glu
ENST00000538635.5:n.421-27986C>G
ENST00000539641.1:n.7C>G
NM_000552.3:c.3654C>G NP_000543.2:p.Asp1218Glu
NM_000552.4:c.3654C>G NP_000543.2:p.Asp1218Glu
NM_000552.5:c.3654C>G MANE Select NP_000543.3:p.Asp1218Glu
Search 100 bp 5'
Search 100 bp 3'