Canonical Allele Identifier: CA2699791751

Gene: VWA3B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98217823A>C , CM000664.2:g.98217823A>C	GRCh38
NC_000002.11:g.98834286A>C , CM000664.1:g.98834286A>C	GRCh37
NC_000002.10:g.98200718A>C	NCBI36
NG_054753.1:g.135692A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_144992.5:c.1837-23A>C MANE Select	NP_659429.4:n.1837-23A>C
ENST00000477737.6:c.1837-23A>C MANE Select	ENSP00000417955.1:n.1837-23A>C
NM_001345864.1:c.808-23A>C	NP_001332793.1:n.808-23A>C
NM_001345864.2:c.808-23A>C	NP_001332793.1:n.808-23A>C
NM_144992.4:c.1837-23A>C	NP_659429.4:n.1837-23A>C
NR_144296.1:n.2160-23A>C
NR_144296.2:n.2125-23A>C
NR_144297.1:n.2020-23A>C
NR_144297.2:n.1985-23A>C
NR_144298.1:n.1660-23A>C
NR_144298.2:n.1625-23A>C
ENST00000409460.5:n.2043-23A>C
ENST00000416277.5:c.*484-23A>C	ENSP00000411168.1:n.*484-23A>C
ENST00000432242.5:c.*1590-23A>C	ENSP00000396734.1:n.*1590-23A>C
ENST00000433678.5:c.*183-23A>C	ENSP00000388158.1:n.*183-23A>C
ENST00000448638.5:c.*484-23A>C	ENSP00000396866.1:n.*484-23A>C
ENST00000473149.5:c.68-23A>C
ENST00000477737.5:c.1837-23A>C	ENSP00000417955.1:n.1837-23A>C
ENST00000489630.5:c.68-23A>C
ENST00000489968.5:n.444-23A>C
ENST00000495571.5:c.499-23A>C
XM_005263897.1:c.1837-23A>C	XP_005263954.1:n.1837-23A>C
XM_005263897.2:c.1837-23A>C	XP_005263954.1:n.1837-23A>C
XM_006712357.1:c.1387-23A>C	XP_006712420.1:n.1387-23A>C
XM_006712357.2:c.1387-23A>C	XP_006712420.1:n.1387-23A>C
XM_006712359.2:c.394-23A>C	XP_006712422.1:n.394-23A>C
XM_006712359.3:c.394-23A>C	XP_006712422.1:n.394-23A>C
XM_006712360.2:c.13-23A>C	XP_006712423.1:n.13-23A>C
XM_011510770.1:c.1837-23A>C	XP_011509072.1:n.1837-23A>C
XM_011510771.1:c.1711-23A>C	XP_011509073.1:n.1711-23A>C
XM_011510771.2:c.1711-23A>C	XP_011509073.1:n.1711-23A>C
XM_011510772.1:c.1837-23A>C	XP_011509074.1:n.1837-23A>C
XM_011510773.1:c.1837-23A>C	XP_011509075.1:n.1837-23A>C
XM_011510774.1:c.1837-23A>C	XP_011509076.1:n.1837-23A>C
XM_017003561.1:c.808-23A>C	XP_016859050.1:n.808-23A>C
XM_017003562.1:c.808-23A>C	XP_016859051.1:n.808-23A>C
XM_017003564.1:c.1837-23A>C	XP_016859053.1:n.1837-23A>C
XM_024452744.1:c.808-23A>C	XP_024308512.1:n.808-23A>C
XR_244881.1:n.499-23A>C
XR_922884.1:n.2066-23A>C
XR_922885.1:n.2066-23A>C
XR_922885.3:n.2066-23A>C
XR_922886.1:n.2066-23A>C
XR_922887.1:n.2287-23A>C