Canonical Allele Identifier: CA2617229802

Gene: VWF

Linked Data

• gnomAD v4: 12-6018334-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018334C>A , CM000674.2:g.6018334C>A	GRCh38
NC_000012.11:g.6127500C>A , CM000674.1:g.6127500C>A	GRCh37
NC_000012.10:g.5997761C>A	NCBI36
NG_009072.1:g.111337G>T
NG_009072.2:g.111337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5053+31G>T MANE Select	ENSP00000261405.5:n.5053+31G>T
ENST00000261405.9:c.5053+31G>T	ENSP00000261405.5:n.5053+31G>T
ENST00000538635.5:n.421-24400G>T
NM_000552.3:c.5053+31G>T	NP_000543.2:n.5053+31G>T
NM_000552.4:c.5053+31G>T	NP_000543.2:n.5053+31G>T
NM_000552.5:c.5053+31G>T MANE Select	NP_000543.3:n.5053+31G>T