Canonical Allele Identifier: CA15487167

Gene: IFRD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.112475603C>T , CM000669.2:g.112475603C>T	GRCh38
NC_000007.13:g.112115658C>T , CM000669.1:g.112115658C>T	GRCh37
NC_000007.12:g.111902894C>T	NCBI36
NG_027799.1:g.57460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403825.8:c.*84C>T MANE Select	ENSP00000384477.3:n.*84C>T
ENST00000674887.1:c.*704C>T	ENSP00000502760.1:n.*704C>T
ENST00000674915.1:c.*519C>T	ENSP00000502525.1:n.*519C>T
ENST00000675041.1:c.*743C>T	ENSP00000501576.1:n.*743C>T
ENST00000675578.1:c.*84C>T	ENSP00000502336.1:n.*84C>T
ENST00000675717.1:c.*1093C>T	ENSP00000501686.1:n.*1093C>T
ENST00000675905.1:c.1266+2742C>T	ENSP00000502605.1:n.1266+2742C>T
ENST00000676282.1:c.*84C>T	ENSP00000501830.1:n.*84C>T
ENST00000403825.7:c.*84C>T	ENSP00000384477.3:n.*84C>T
ENST00000462155.2:c.255+2742C>T	ENSP00000435635.1:n.255+2742C>T
ENST00000489994.5:n.1138C>T
ENST00000535603.5:c.*84C>T	ENSP00000439188.1:n.*84C>T
ENST00000621379.4:c.*84C>T	ENSP00000483255.1:n.*84C>T
NM_001007245.2:c.*84C>T	NP_001007246.1:n.*84C>T
NM_001197079.1:c.*84C>T	NP_001184008.1:n.*84C>T
NM_001197080.1:c.*84C>T	NP_001184009.1:n.*84C>T
NM_001550.3:c.*84C>T	NP_001541.2:n.*84C>T
NR_120333.1:n.1557C>T
XM_011516142.1:c.*84C>T	XP_011514444.1:n.*84C>T
XM_011516143.1:c.*84C>T	XP_011514445.1:n.*84C>T
XR_927462.1:n.3586C>T
XR_927463.1:n.3327C>T
XM_011516142.3:c.*84C>T	XP_011514444.1:n.*84C>T
XM_011516143.3:c.*84C>T	XP_011514445.1:n.*84C>T
XR_001744703.2:n.1801C>T
XR_001744704.2:n.1866C>T
XR_927462.3:n.1816C>T
XR_927463.3:n.1557C>T
NM_001007245.3:c.*84C>T	NP_001007246.1:n.*84C>T
NM_001197079.2:c.*84C>T	NP_001184008.1:n.*84C>T
NM_001197080.2:c.*84C>T	NP_001184009.1:n.*84C>T
NM_001550.4:c.*84C>T MANE Select	NP_001541.2:n.*84C>T