Canonical Allele Identifier: CA7373290

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714682G>A , CM000676.2:g.104714682G>A	GRCh38
NC_000014.8:g.105181019G>A , CM000676.1:g.105181019G>A	GRCh37
NC_000014.7:g.104252064G>A	NCBI36
NG_027684.1:g.30077G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3520G>A MANE Select	NP_071934.3:p.Glu1174Lys
ENST00000392634.9:c.3520G>A MANE Select	ENSP00000376410.4:p.Glu1174Lys
NM_001031714.3:c.3520G>A	NP_001026884.3:p.Glu1174Lys
NM_001031714.4:c.3520G>A	NP_001026884.3:p.Glu1174Lys
NM_022489.3:c.3520G>A	NP_071934.3:p.Glu1174Lys
ENST00000252527.8:c.1924G>A	ENSP00000252527.8:p.Glu642Lys
ENST00000330634.11:c.3520G>A	ENSP00000376406.3:p.Glu1174Lys
ENST00000392634.8:c.3520G>A	ENSP00000376410.4:p.Glu1174Lys
ENST00000617571.4:c.-614G>A	ENSP00000483829.1:n.-614G>A
ENST00000617571.5:c.3516G>A	ENSP00000483829.2:n.3516G>A
ENST00000674520.1:c.3515G>A	ENSP00000502593.1:n.3515G>A
ENST00000674631.1:c.1558G>A	ENSP00000502830.1:p.Glu520Lys
ENST00000674662.1:c.3524G>A	ENSP00000501895.1:n.3524G>A
ENST00000674757.1:c.3525G>A	ENSP00000502202.1:n.3525G>A
ENST00000674822.1:c.3404G>A	ENSP00000501552.1:n.3404G>A
ENST00000674846.1:c.3515G>A	ENSP00000502431.1:n.3515G>A
ENST00000674857.1:c.3509G>A	ENSP00000501687.1:n.3509G>A
ENST00000674960.1:c.3378G>A	ENSP00000501841.1:n.3378G>A
ENST00000674991.1:c.2770G>A	ENSP00000502004.1:p.Glu924Lys
ENST00000675207.1:c.3616G>A	ENSP00000502644.1:p.Glu1206Lys
ENST00000675329.1:c.3496G>A	ENSP00000502287.1:p.Glu1166Lys
ENST00000675481.1:c.3520G>A	ENSP00000502723.1:p.Glu1174Lys
ENST00000675583.1:c.3449G>A	ENSP00000501740.1:n.3449G>A
ENST00000675603.1:n.760G>A
ENST00000675638.1:c.3439G>A	ENSP00000501647.1:p.Glu1147Lys
ENST00000675724.1:c.3458G>A	ENSP00000502576.1:n.3458G>A
ENST00000675771.1:c.2783G>A	ENSP00000502104.1:n.2783G>A
ENST00000675797.1:c.2925G>A	ENSP00000502023.1:n.2925G>A
ENST00000675809.1:c.3575G>A	ENSP00000502587.1:n.3575G>A
ENST00000675930.1:c.3408G>A	ENSP00000502456.1:p.Thr1136=
ENST00000675980.1:c.3538G>A	ENSP00000502520.1:p.Glu1180Lys
ENST00000676016.1:c.3419G>A	ENSP00000502412.1:n.3419G>A
ENST00000676366.1:c.3327G>A	ENSP00000501605.1:p.Thr1109=
XM_005268004.3:c.3616G>A	XP_005268061.1:p.Glu1206Lys
XM_005268004.4:c.3616G>A	XP_005268061.1:p.Glu1206Lys
XM_005268005.3:c.3616G>A	XP_005268062.1:p.Glu1206Lys
XM_005268005.4:c.3616G>A	XP_005268062.1:p.Glu1206Lys
XM_017021595.1:c.3616G>A	XP_016877084.1:p.Glu1206Lys
XR_943507.1:n.3745G>A