Canonical Allele Identifier: CA249008926

Gene: VWA8

Linked Data

• dbSNP Id: rs545200567
• gnomAD v3: 13-41931482-A-T
• gnomAD v4: 13-41931482-A-T
• MyVariant Identifiers: chr13:g.42505618A>T (hg19) ; chr13:g.41931482A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931482A>T , CM000675.2:g.41931482A>T	GRCh38
NC_000013.10:g.42505618A>T , CM000675.1:g.42505618A>T	GRCh37
NC_000013.9:g.41403618A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379310.8:c.241+18454T>A MANE Select	ENSP00000368612.3:n.241+18454T>A
ENST00000281496.6:c.241+18454T>A	ENSP00000281496.6:n.241+18454T>A
ENST00000379310.7:c.241+18454T>A	ENSP00000368612.3:n.241+18454T>A
NM_001009814.1:c.241+18454T>A	NP_001009814.1:n.241+18454T>A
NM_015058.1:c.241+18454T>A	NP_055873.1:n.241+18454T>A
XM_011535006.1:c.-48+18454T>A	XP_011533308.1:n.-48+18454T>A
XM_011535007.1:c.241+18454T>A	XP_011533309.1:n.241+18454T>A
XM_011535007.3:c.241+18454T>A	XP_011533309.1:n.241+18454T>A
XM_017020469.2:c.58+5833T>A	XP_016875958.1:n.58+5833T>A
XM_017020470.2:c.241+18454T>A	XP_016875959.1:n.241+18454T>A
XM_017020471.2:c.241+18454T>A	XP_016875960.1:n.241+18454T>A
XM_017020474.2:c.241+18454T>A	XP_016875963.1:n.241+18454T>A
XR_001749518.2:n.972+18454T>A
NM_015058.2:c.241+18454T>A MANE Select	NP_055873.1:n.241+18454T>A
NM_001009814.2:c.241+18454T>A	NP_001009814.1:n.241+18454T>A