Canonical Allele Identifier: CA4165434

Gene: VWDE

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.12351693G>T , CM000669.2:g.12351693G>T	GRCh38
NC_000007.13:g.12391319G>T , CM000669.1:g.12391319G>T	GRCh37
NC_000007.12:g.12357844G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275358.8:c.3766C>A MANE Select	ENSP00000275358.3:p.Gln1256Lys
ENST00000644150.1:c.379C>A	ENSP00000495749.1:p.Gln127Lys
ENST00000649524.1:c.21C>A
ENST00000275358.7:c.3766C>A	ENSP00000275358.3:p.Gln1256Lys
ENST00000452576.6:c.*530C>A	ENSP00000401687.2:n.*530C>A
ENST00000521169.5:c.*2144C>A	ENSP00000428810.1:n.*2144C>A
ENST00000614403.4:c.2128C>A	ENSP00000481403.1:p.Gln710Lys
NM_001135924.1:c.3766C>A	NP_001129396.1:p.Gln1256Lys
XM_005249641.1:c.2128C>A	XP_005249698.1:p.Gln710Lys
XM_011515174.1:c.3904C>A	XP_011513476.1:p.Gln1302Lys
XM_011515175.1:c.3766C>A	XP_011513477.1:p.Gln1256Lys
XR_926922.1:n.4626C>A
XR_926923.1:n.4241C>A
NM_001135924.2:c.3766C>A	NP_001129396.1:p.Gln1256Lys
NM_001346972.1:c.3421C>A	NP_001333901.1:p.Gln1141Lys
NM_001346973.1:c.2956C>A	NP_001333902.1:p.Gln986Lys
NR_144534.1:n.4664C>A
XM_017011829.1:c.2956C>A	XP_016867318.1:p.Gln986Lys
NM_001135924.3:c.3766C>A MANE Select	NP_001129396.1:p.Gln1256Lys
NM_001346972.2:c.3421C>A	NP_001333901.1:p.Gln1141Lys
NM_001346973.2:c.2956C>A	NP_001333902.1:p.Gln986Lys
NR_144534.2:n.4588C>A