Canonical Allele Identifier: CA7373170

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714223G>A , CM000676.2:g.104714223G>A	GRCh38
NC_000014.8:g.105180560G>A , CM000676.1:g.105180560G>A	GRCh37
NC_000014.7:g.104251605G>A	NCBI36
NG_027684.1:g.29618G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3061G>A MANE Select	NP_071934.3:p.Gly1021Arg
ENST00000392634.9:c.3061G>A MANE Select	ENSP00000376410.4:p.Gly1021Arg
NM_001031714.3:c.3061G>A	NP_001026884.3:p.Gly1021Arg
NM_001031714.4:c.3061G>A	NP_001026884.3:p.Gly1021Arg
NM_022489.3:c.3061G>A	NP_071934.3:p.Gly1021Arg
ENST00000252527.8:c.1465G>A	ENSP00000252527.8:p.Gly489Arg
ENST00000330634.11:c.3061G>A	ENSP00000376406.3:p.Gly1021Arg
ENST00000392634.8:c.3061G>A	ENSP00000376410.4:p.Gly1021Arg
ENST00000617571.4:c.-1073G>A	ENSP00000483829.1:n.-1073G>A
ENST00000617571.5:c.3057G>A	ENSP00000483829.2:p.Gln1019=
ENST00000674520.1:c.3056G>A	ENSP00000502593.1:n.3056G>A
ENST00000674631.1:c.1099G>A	ENSP00000502830.1:p.Gly367Arg
ENST00000674662.1:c.3065G>A	ENSP00000501895.1:n.3065G>A
ENST00000674757.1:c.3066G>A	ENSP00000502202.1:p.Gln1022=
ENST00000674822.1:c.2945G>A	ENSP00000501552.1:n.2945G>A
ENST00000674846.1:c.3056G>A	ENSP00000502431.1:n.3056G>A
ENST00000674857.1:c.3050G>A	ENSP00000501687.1:n.3050G>A
ENST00000674960.1:c.2919G>A	ENSP00000501841.1:n.2919G>A
ENST00000674991.1:c.2311G>A	ENSP00000502004.1:p.Gly771Arg
ENST00000675207.1:c.3157G>A	ENSP00000502644.1:p.Gly1053Arg
ENST00000675329.1:c.3037G>A	ENSP00000502287.1:p.Gly1013Arg
ENST00000675481.1:c.3061G>A	ENSP00000502723.1:p.Gly1021Arg
ENST00000675583.1:c.2990G>A	ENSP00000501740.1:n.2990G>A
ENST00000675603.1:n.301G>A
ENST00000675638.1:c.3041-61G>A	ENSP00000501647.1:n.3041-61G>A
ENST00000675724.1:c.2999G>A	ENSP00000502576.1:n.2999G>A
ENST00000675771.1:c.2324G>A	ENSP00000502104.1:n.2324G>A
ENST00000675797.1:c.2466G>A	ENSP00000502023.1:n.2466G>A
ENST00000675809.1:c.3116G>A	ENSP00000502587.1:n.3116G>A
ENST00000675930.1:c.3061G>A	ENSP00000502456.1:p.Gly1021Arg
ENST00000675980.1:c.3079G>A	ENSP00000502520.1:p.Gly1027Arg
ENST00000676016.1:c.2960G>A	ENSP00000502412.1:n.2960G>A
ENST00000676366.1:c.3061G>A	ENSP00000501605.1:p.Gly1021Arg
XM_005268004.3:c.3157G>A	XP_005268061.1:p.Gly1053Arg
XM_005268004.4:c.3157G>A	XP_005268061.1:p.Gly1053Arg
XM_005268005.3:c.3157G>A	XP_005268062.1:p.Gly1053Arg
XM_005268005.4:c.3157G>A	XP_005268062.1:p.Gly1053Arg
XM_017021595.1:c.3157G>A	XP_016877084.1:p.Gly1053Arg
XR_943507.1:n.3286G>A