Canonical Allele Identifier: CA14077728

Gene: IVD

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40425103G>A , CM000677.2:g.40425103G>A	GRCh38
NC_000015.9:g.40717302G>A , CM000677.1:g.40717302G>A	GRCh37
NC_000015.8:g.38504594G>A	NCBI36
NG_011986.2:g.24619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473112.6:c.720-8751G>A
ENST00000481262.6:c.650+8741G>A
ENST00000491554.6:c.617+887G>A	ENSP00000453146.1:n.617+887G>A
XM_005254350.2:c.1147+8741G>A	XP_005254407.1:n.1147+8741G>A
XM_005254356.2:c.875+9621G>A	XP_005254413.1:n.875+9621G>A
XM_006720491.2:c.1090+8741G>A	XP_006720554.1:n.1090+8741G>A
XM_006720492.2:c.1229+887G>A	XP_006720555.1:n.1229+887G>A
XM_006720493.2:c.1147+8741G>A	XP_006720556.1:n.1147+8741G>A
XM_006720495.2:c.969+9621G>A	XP_006720558.1:n.969+9621G>A
XM_011521523.1:c.1229+887G>A	XP_011519825.1:n.1229+887G>A
XR_243098.2:n.1053+8741G>A
NM_001354598.2:c.1220+887G>A	NP_001341527.2:n.1220+887G>A
NM_001354600.2:c.1307+887G>A	NP_001341529.2:n.1307+887G>A
NM_001354601.2:c.1138+8741G>A	NP_001341530.2:n.1138+8741G>A
NR_148925.1:n.1630+887G>A
XM_006720495.3:c.969+9621G>A	XP_006720558.1:n.969+9621G>A
XM_017022149.1:c.1234+8741G>A	XP_016877638.1:n.1234+8741G>A
XM_017022150.1:c.1316+887G>A	XP_016877639.1:n.1316+887G>A
XM_017022153.1:c.1234+8741G>A	XP_016877642.1:n.1234+8741G>A
XM_017022157.1:c.1056+9621G>A	XP_016877646.1:n.1056+9621G>A
NM_001354598.3:c.1220+887G>A	NP_001341527.2:n.1220+887G>A
NM_001354600.3:c.1307+887G>A	NP_001341529.2:n.1307+887G>A
NM_001354601.3:c.1138+8741G>A	NP_001341530.2:n.1138+8741G>A
NR_148925.2:n.1632+887G>A