Canonical Allele Identifier: CA7373342

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714836G>A , CM000676.2:g.104714836G>A	GRCh38
NC_000014.8:g.105181173G>A , CM000676.1:g.105181173G>A	GRCh37
NC_000014.7:g.104252218G>A	NCBI36
NG_027684.1:g.30231G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3674G>A MANE Select	NP_071934.3:p.Arg1225His
ENST00000392634.9:c.3674G>A MANE Select	ENSP00000376410.4:p.Arg1225His
NM_001031714.3:c.3674G>A	NP_001026884.3:p.Arg1225His
NM_001031714.4:c.3674G>A	NP_001026884.3:p.Arg1225His
NM_022489.3:c.3674G>A	NP_071934.3:p.Arg1225His
ENST00000252527.8:c.2078G>A	ENSP00000252527.8:p.Arg693His
ENST00000330634.11:c.3674G>A	ENSP00000376406.3:p.Arg1225His
ENST00000392634.8:c.3674G>A	ENSP00000376410.4:p.Arg1225His
ENST00000617571.4:c.-460G>A	ENSP00000483829.1:n.-460G>A
ENST00000617571.5:c.3670G>A	ENSP00000483829.2:n.3670G>A
ENST00000674520.1:c.3669G>A	ENSP00000502593.1:n.3669G>A
ENST00000674631.1:c.1712G>A	ENSP00000502830.1:p.Arg571His
ENST00000674662.1:c.3678G>A	ENSP00000501895.1:n.3678G>A
ENST00000674757.1:c.3679G>A	ENSP00000502202.1:n.3679G>A
ENST00000674822.1:c.3558G>A	ENSP00000501552.1:n.3558G>A
ENST00000674846.1:c.3669G>A	ENSP00000502431.1:n.3669G>A
ENST00000674857.1:c.3663G>A	ENSP00000501687.1:n.3663G>A
ENST00000674960.1:c.3532G>A	ENSP00000501841.1:n.3532G>A
ENST00000674991.1:c.2924G>A	ENSP00000502004.1:p.Arg975His
ENST00000675207.1:c.3770G>A	ENSP00000502644.1:p.Arg1257His
ENST00000675329.1:c.3650G>A	ENSP00000502287.1:p.Arg1217His
ENST00000675481.1:c.3674G>A	ENSP00000502723.1:p.Arg1225His
ENST00000675583.1:c.3603G>A	ENSP00000501740.1:n.3603G>A
ENST00000675603.1:n.914G>A
ENST00000675638.1:c.3593G>A	ENSP00000501647.1:p.Arg1198His
ENST00000675724.1:c.3612G>A	ENSP00000502576.1:n.3612G>A
ENST00000675771.1:c.2937G>A	ENSP00000502104.1:n.2937G>A
ENST00000675797.1:c.3079G>A	ENSP00000502023.1:n.3079G>A
ENST00000675809.1:c.3729G>A	ENSP00000502587.1:n.3729G>A
ENST00000675930.1:c.3562G>A	ENSP00000502456.1:n.3562G>A
ENST00000675980.1:c.3692G>A	ENSP00000502520.1:p.Arg1231His
ENST00000676016.1:c.3573G>A	ENSP00000502412.1:n.3573G>A
ENST00000676366.1:c.3481G>A	ENSP00000501605.1:n.3481G>A
XM_005268004.3:c.3770G>A	XP_005268061.1:p.Arg1257His
XM_005268004.4:c.3770G>A	XP_005268061.1:p.Arg1257His
XM_005268005.3:c.3770G>A	XP_005268062.1:p.Arg1257His
XM_005268005.4:c.3770G>A	XP_005268062.1:p.Arg1257His
XM_017021595.1:c.3770G>A	XP_016877084.1:p.Arg1257His
XR_943507.1:n.3899G>A