Canonical Allele Identifier: CA383495611
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6016200-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016200T>C , CM000674.2:g.6016200T>C GRCh38
NC_000012.11:g.6125366T>C , CM000674.1:g.6125366T>C GRCh37
NC_000012.10:g.5995627T>C NCBI36
NG_009072.1:g.113471A>G
NG_009072.2:g.113471A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5344A>G MANE Select ENSP00000261405.5:p.Thr1782Ala
ENST00000261405.9:c.5344A>G ENSP00000261405.5:p.Thr1782Ala
ENST00000538635.5:n.421-22266A>G
NM_000552.3:c.5344A>G NP_000543.2:p.Thr1782Ala
NM_000552.4:c.5344A>G NP_000543.2:p.Thr1782Ala
NM_000552.5:c.5344A>G MANE Select NP_000543.3:p.Thr1782Ala