Canonical Allele Identifier: CA2171765944

Gene: IVD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411586C= , CM000677.2:g.40411586C=	GRCh38
NC_000015.9:g.40703785C= , CM000677.1:g.40703785C=	GRCh37
NC_000015.8:g.38491077C=	NCBI36
NG_011986.1:g.11100C=
NG_011986.2:g.11102C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.492C=	ENSP00000417990.3:p.Phe164=
ENST00000487418.8:c.582C= MANE Select	ENSP00000418397.3:p.Phe194=
ENST00000650656.1:c.501C=	ENSP00000498731.1:p.Phe167=
ENST00000651168.1:c.591C=	ENSP00000499074.1:p.Phe197=
ENST00000473112.6:c.341C=
ENST00000479013.6:c.501C=	ENSP00000417990.2:p.Phe167=
ENST00000481262.6:c.188C=
ENST00000484250.1:n.205C=
ENST00000487418.6:c.591C=	ENSP00000418397.2:p.Phe197=
ENST00000558610.5:c.534C=	ENSP00000453821.1:p.Phe178=
NM_001159508.1:c.501C=	NP_001152980.1:p.Phe167=
NM_002225.3:c.591C=	NP_002216.2:p.Phe197=
XM_005254350.2:c.591C=	XP_005254407.1:p.Phe197=
XM_005254356.2:c.591C=	XP_005254413.1:p.Phe197=
XM_006720491.2:c.534C=	XP_006720554.1:p.Phe178=
XM_006720492.2:c.591C=	XP_006720555.1:p.Phe197=
XM_006720493.2:c.591C=	XP_006720556.1:p.Phe197=
XM_006720494.2:c.591C=	XP_006720557.1:p.Phe197=
XM_006720495.2:c.591C=	XP_006720558.1:p.Phe197=
XM_011521523.1:c.591C=	XP_011519825.1:p.Phe197=
XM_011521524.1:c.591C=	XP_011519826.1:p.Phe197=
XR_243097.3:n.591C=
XR_243098.2:n.591C=
XR_429453.2:n.692C=
NM_001159508.2:c.492C=	NP_001152980.2:p.Phe164=
NM_001354597.2:c.534C=	NP_001341526.1:p.Phe178=
NM_001354598.2:c.582C=	NP_001341527.2:p.Phe194=
NM_001354599.2:c.669C=	NP_001341528.2:p.Phe223=
NM_001354600.2:c.669C=	NP_001341529.2:p.Phe223=
NM_001354601.2:c.582C=	NP_001341530.2:p.Phe194=
NM_002225.4:c.582C=	NP_002216.3:p.Phe194=
NR_148925.1:n.992C=
XM_006720495.3:c.591C=	XP_006720558.1:p.Phe197=
XM_017022149.1:c.678C=	XP_016877638.1:p.Phe226=
XM_017022150.1:c.678C=	XP_016877639.1:p.Phe226=
XM_017022153.1:c.678C=	XP_016877642.1:p.Phe226=
XM_017022154.2:c.621C=	XP_016877643.1:p.Phe207=
XM_017022155.2:c.678C=	XP_016877644.1:p.Phe226=
XM_017022157.1:c.678C=	XP_016877646.1:p.Phe226=
XM_017022158.2:c.678C=	XP_016877647.1:p.Phe226=
XR_001751263.1:n.941C=
XR_001751264.1:n.982C=
NM_001159508.3:c.492C=	NP_001152980.2:p.Phe164=
NM_001354597.3:c.534C=	NP_001341526.1:p.Phe178=
NM_001354598.3:c.582C=	NP_001341527.2:p.Phe194=
NM_001354599.3:c.669C=	NP_001341528.2:p.Phe223=
NM_001354600.3:c.669C=	NP_001341529.2:p.Phe223=
NM_001354601.3:c.582C=	NP_001341530.2:p.Phe194=
NM_002225.5:c.582C= MANE Select	NP_002216.3:p.Phe194=
NR_148925.2:n.994C=