Canonical Allele Identifier: CA6964224

Gene: VWA8

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41811285C>T , CM000675.2:g.41811285C>T	GRCh38
NC_000013.10:g.42385421C>T , CM000675.1:g.42385421C>T	GRCh37
NC_000013.9:g.41283421C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015058.2:c.2003G>A MANE Select	NP_055873.1:p.Arg668Gln
ENST00000379310.8:c.2003G>A MANE Select	ENSP00000368612.3:p.Arg668Gln
NM_001009814.1:c.2003G>A	NP_001009814.1:p.Arg668Gln
NM_001009814.2:c.2003G>A	NP_001009814.1:p.Arg668Gln
NM_015058.1:c.2003G>A	NP_055873.1:p.Arg668Gln
ENST00000281496.6:c.2003G>A	ENSP00000281496.6:p.Arg668Gln
ENST00000379310.7:c.2003G>A	ENSP00000368612.3:p.Arg668Gln
XM_006719791.2:c.938G>A	XP_006719854.1:p.Arg313Gln
XM_006719791.4:c.938G>A	XP_006719854.1:p.Arg313Gln
XM_011535006.1:c.1715G>A	XP_011533308.1:p.Arg572Gln
XM_011535007.1:c.2003G>A	XP_011533309.1:p.Arg668Gln
XM_011535007.3:c.2003G>A	XP_011533309.1:p.Arg668Gln
XM_017020469.2:c.1820G>A	XP_016875958.1:p.Arg607Gln
XM_017020470.2:c.2003G>A	XP_016875959.1:p.Arg668Gln
XM_017020471.2:c.2003G>A	XP_016875960.1:p.Arg668Gln
XM_017020474.2:c.2003G>A	XP_016875963.1:p.Arg668Gln
XR_001749518.2:n.2734G>A