Canonical Allele Identifier: CA7373343

Gene: INF2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714846G>A , CM000676.2:g.104714846G>A	GRCh38
NC_000014.8:g.105181183G>A , CM000676.1:g.105181183G>A	GRCh37
NC_000014.7:g.104252228G>A	NCBI36
NG_027684.1:g.30241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392634.9:c.3684G>A MANE Select	ENSP00000376410.4:p.Arg1228=
ENST00000617571.5:c.3680G>A	ENSP00000483829.2:n.3680G>A
ENST00000674520.1:c.3679G>A	ENSP00000502593.1:n.3679G>A
ENST00000674631.1:c.1722G>A	ENSP00000502830.1:p.Arg574=
ENST00000674662.1:c.3688G>A	ENSP00000501895.1:n.3688G>A
ENST00000674757.1:c.3689G>A	ENSP00000502202.1:n.3689G>A
ENST00000674822.1:c.3568G>A	ENSP00000501552.1:n.3568G>A
ENST00000674846.1:c.3679G>A	ENSP00000502431.1:n.3679G>A
ENST00000674857.1:c.3673G>A	ENSP00000501687.1:n.3673G>A
ENST00000674960.1:c.3542G>A	ENSP00000501841.1:n.3542G>A
ENST00000674991.1:c.2934G>A	ENSP00000502004.1:p.Arg978=
ENST00000675207.1:c.3780G>A	ENSP00000502644.1:p.Arg1260=
ENST00000675329.1:c.3660G>A	ENSP00000502287.1:p.Arg1220=
ENST00000675481.1:c.3684G>A	ENSP00000502723.1:p.Arg1228=
ENST00000675583.1:c.3613G>A	ENSP00000501740.1:n.3613G>A
ENST00000675603.1:n.924G>A
ENST00000675638.1:c.3603G>A	ENSP00000501647.1:p.Arg1201=
ENST00000675724.1:c.3622G>A	ENSP00000502576.1:n.3622G>A
ENST00000675771.1:c.2947G>A	ENSP00000502104.1:n.2947G>A
ENST00000675797.1:c.3089G>A	ENSP00000502023.1:n.3089G>A
ENST00000675809.1:c.3739G>A	ENSP00000502587.1:n.3739G>A
ENST00000675930.1:c.3572G>A	ENSP00000502456.1:n.3572G>A
ENST00000675980.1:c.3702G>A	ENSP00000502520.1:p.Arg1234=
ENST00000676016.1:c.3583G>A	ENSP00000502412.1:n.3583G>A
ENST00000676366.1:c.3491G>A	ENSP00000501605.1:n.3491G>A
ENST00000252527.8:c.2088G>A	ENSP00000252527.8:p.Arg696=
ENST00000330634.11:c.3684G>A	ENSP00000376406.3:p.Arg1228=
ENST00000392634.8:c.3684G>A	ENSP00000376410.4:p.Arg1228=
ENST00000617571.4:c.-450G>A	ENSP00000483829.1:n.-450G>A
NM_001031714.3:c.3684G>A	NP_001026884.3:p.Arg1228=
NM_022489.3:c.3684G>A	NP_071934.3:p.Arg1228=
XM_005268004.3:c.3780G>A	XP_005268061.1:p.Arg1260=
XM_005268005.3:c.3780G>A	XP_005268062.1:p.Arg1260=
XR_943507.1:n.3909G>A
XM_005268004.4:c.3780G>A	XP_005268061.1:p.Arg1260=
XM_005268005.4:c.3780G>A	XP_005268062.1:p.Arg1260=
XM_017021595.1:c.3780G>A	XP_016877084.1:p.Arg1260=
NM_001031714.4:c.3684G>A	NP_001026884.3:p.Arg1228=
NM_022489.4:c.3684G>A MANE Select	NP_071934.3:p.Arg1228=