Canonical Allele Identifier: CA7373234

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714535G>A , CM000676.2:g.104714535G>A	GRCh38
NC_000014.8:g.105180872G>A , CM000676.1:g.105180872G>A	GRCh37
NC_000014.7:g.104251917G>A	NCBI36
NG_027684.1:g.29930G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3373G>A MANE Select	NP_071934.3:p.Gly1125Arg
ENST00000392634.9:c.3373G>A MANE Select	ENSP00000376410.4:p.Gly1125Arg
NM_001031714.3:c.3373G>A	NP_001026884.3:p.Gly1125Arg
NM_001031714.4:c.3373G>A	NP_001026884.3:p.Gly1125Arg
NM_022489.3:c.3373G>A	NP_071934.3:p.Gly1125Arg
ENST00000252527.8:c.1777G>A	ENSP00000252527.8:p.Gly593Arg
ENST00000330634.11:c.3373G>A	ENSP00000376406.3:p.Gly1125Arg
ENST00000392634.8:c.3373G>A	ENSP00000376410.4:p.Gly1125Arg
ENST00000617571.4:c.-761G>A	ENSP00000483829.1:n.-761G>A
ENST00000617571.5:c.3369G>A	ENSP00000483829.2:n.3369G>A
ENST00000674520.1:c.3368G>A	ENSP00000502593.1:n.3368G>A
ENST00000674631.1:c.1411G>A	ENSP00000502830.1:p.Gly471Arg
ENST00000674662.1:c.3377G>A	ENSP00000501895.1:n.3377G>A
ENST00000674757.1:c.3378G>A	ENSP00000502202.1:n.3378G>A
ENST00000674822.1:c.3257G>A	ENSP00000501552.1:n.3257G>A
ENST00000674846.1:c.3368G>A	ENSP00000502431.1:n.3368G>A
ENST00000674857.1:c.3362G>A	ENSP00000501687.1:n.3362G>A
ENST00000674960.1:c.3231G>A	ENSP00000501841.1:n.3231G>A
ENST00000674991.1:c.2623G>A	ENSP00000502004.1:p.Gly875Arg
ENST00000675207.1:c.3469G>A	ENSP00000502644.1:p.Gly1157Arg
ENST00000675329.1:c.3349G>A	ENSP00000502287.1:p.Gly1117Arg
ENST00000675481.1:c.3373G>A	ENSP00000502723.1:p.Gly1125Arg
ENST00000675583.1:c.3302G>A	ENSP00000501740.1:n.3302G>A
ENST00000675603.1:n.613G>A
ENST00000675638.1:c.3292G>A	ENSP00000501647.1:p.Gly1098Arg
ENST00000675724.1:c.3311G>A	ENSP00000502576.1:n.3311G>A
ENST00000675771.1:c.2636G>A	ENSP00000502104.1:n.2636G>A
ENST00000675797.1:c.2778G>A	ENSP00000502023.1:n.2778G>A
ENST00000675809.1:c.3428G>A	ENSP00000502587.1:n.3428G>A
ENST00000675930.1:c.3261G>A	ENSP00000502456.1:p.Pro1087=
ENST00000675980.1:c.3391G>A	ENSP00000502520.1:p.Gly1131Arg
ENST00000676016.1:c.3272G>A	ENSP00000502412.1:n.3272G>A
ENST00000676366.1:c.3234-54G>A	ENSP00000501605.1:n.3234-54G>A
XM_005268004.3:c.3469G>A	XP_005268061.1:p.Gly1157Arg
XM_005268004.4:c.3469G>A	XP_005268061.1:p.Gly1157Arg
XM_005268005.3:c.3469G>A	XP_005268062.1:p.Gly1157Arg
XM_005268005.4:c.3469G>A	XP_005268062.1:p.Gly1157Arg
XM_017021595.1:c.3469G>A	XP_016877084.1:p.Gly1157Arg
XR_943507.1:n.3598G>A