Canonical Allele Identifier: CA391724466

Gene: IVD

Linked Data

• MyVariant Identifiers: chr15:g.40710369T>A (hg19) ; chr15:g.40418170T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40418170T>A , CM000677.2:g.40418170T>A	GRCh38
NC_000015.9:g.40710369T>A , CM000677.1:g.40710369T>A	GRCh37
NC_000015.8:g.38497661T>A	NCBI36
NG_011986.1:g.17684T>A
NG_011986.2:g.17686T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.1089T>A	ENSP00000417990.3:p.Phe363Leu
ENST00000487418.8:c.1179T>A MANE Select	ENSP00000418397.3:p.Phe393Leu
ENST00000650656.1:c.1098T>A	ENSP00000498731.1:p.Phe366Leu
ENST00000651168.1:c.1188T>A	ENSP00000499074.1:p.Phe396Leu
ENST00000466756.2:c.89+1808T>A
ENST00000473112.6:c.719+2688T>A
ENST00000479013.6:c.1098T>A	ENSP00000417990.2:p.Phe366Leu
ENST00000481262.6:c.650+1808T>A
ENST00000487418.6:c.1188T>A	ENSP00000418397.2:p.Phe396Leu
ENST00000491554.6:c.535+1808T>A	ENSP00000453146.1:n.535+1808T>A
ENST00000497252.5:n.560T>A
ENST00000497816.1:n.556T>A
ENST00000559575.5:c.102-1010T>A
NM_001159508.1:c.1098T>A	NP_001152980.1:p.Phe366Leu
NM_002225.3:c.1188T>A	NP_002216.2:p.Phe396Leu
XM_005254350.2:c.1147+1808T>A	XP_005254407.1:n.1147+1808T>A
XM_005254356.2:c.875+2688T>A	XP_005254413.1:n.875+2688T>A
XM_006720491.2:c.1090+1808T>A	XP_006720554.1:n.1090+1808T>A
XM_006720492.2:c.1147+1808T>A	XP_006720555.1:n.1147+1808T>A
XM_006720493.2:c.1147+1808T>A	XP_006720556.1:n.1147+1808T>A
XM_006720494.2:c.1148-1010T>A	XP_006720557.1:n.1148-1010T>A
XM_006720495.2:c.969+2688T>A	XP_006720558.1:n.969+2688T>A
XM_011521523.1:c.1147+1808T>A	XP_011519825.1:n.1147+1808T>A
XR_243097.3:n.1094T>A
XR_243098.2:n.1053+1808T>A
XR_429453.2:n.1289T>A
NM_001159508.2:c.1089T>A	NP_001152980.2:p.Phe363Leu
NM_001354597.2:c.1131T>A	NP_001341526.1:p.Phe377Leu
NM_001354598.2:c.1138+1808T>A	NP_001341527.2:n.1138+1808T>A
NM_001354599.2:c.1266T>A	NP_001341528.2:p.Phe422Leu
NM_001354600.2:c.1225+1808T>A	NP_001341529.2:n.1225+1808T>A
NM_001354601.2:c.1138+1808T>A	NP_001341530.2:n.1138+1808T>A
NM_002225.4:c.1179T>A	NP_002216.3:p.Phe393Leu
NR_148925.1:n.1548+1808T>A
XM_006720495.3:c.969+2688T>A	XP_006720558.1:n.969+2688T>A
XM_017022149.1:c.1234+1808T>A	XP_016877638.1:n.1234+1808T>A
XM_017022150.1:c.1234+1808T>A	XP_016877639.1:n.1234+1808T>A
XM_017022153.1:c.1234+1808T>A	XP_016877642.1:n.1234+1808T>A
XM_017022154.2:c.1218T>A	XP_016877643.1:p.Phe406Leu
XM_017022155.2:c.1235-1010T>A	XP_016877644.1:n.1235-1010T>A
XM_017022157.1:c.1056+2688T>A	XP_016877646.1:n.1056+2688T>A
XR_001751263.1:n.1538T>A
NM_001159508.3:c.1089T>A	NP_001152980.2:p.Phe363Leu
NM_001354597.3:c.1131T>A	NP_001341526.1:p.Phe377Leu
NM_001354598.3:c.1138+1808T>A	NP_001341527.2:n.1138+1808T>A
NM_001354599.3:c.1266T>A	NP_001341528.2:p.Phe422Leu
NM_001354600.3:c.1225+1808T>A	NP_001341529.2:n.1225+1808T>A
NM_001354601.3:c.1138+1808T>A	NP_001341530.2:n.1138+1808T>A
NM_002225.5:c.1179T>A MANE Select	NP_002216.3:p.Phe393Leu
NR_148925.2:n.1550+1808T>A