Canonical Allele Identifier: CA7373374

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104715311A>G , CM000676.2:g.104715311A>G	GRCh38
NC_000014.8:g.105181648A>G , CM000676.1:g.105181648A>G	GRCh37
NC_000014.7:g.104252693A>G	NCBI36
NG_027684.1:g.30706A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3722A>G MANE Select	NP_071934.3:p.Lys1241Arg
ENST00000392634.9:c.3722A>G MANE Select	ENSP00000376410.4:p.Lys1241Arg
NM_001031714.3:c.3694+455A>G	NP_001026884.3:n.3694+455A>G
NM_001031714.4:c.3694+455A>G	NP_001026884.3:n.3694+455A>G
NM_022489.3:c.3722A>G	NP_071934.3:p.Lys1241Arg
ENST00000252527.8:c.2126A>G	ENSP00000252527.8:p.Lys709Arg
ENST00000330634.11:c.3694+455A>G	ENSP00000376406.3:n.3694+455A>G
ENST00000392634.8:c.3722A>G	ENSP00000376410.4:p.Lys1241Arg
ENST00000617571.4:c.-412A>G	ENSP00000483829.1:n.-412A>G
ENST00000617571.5:c.3718A>G	ENSP00000483829.2:n.3718A>G
ENST00000674631.1:c.2187A>G	ENSP00000502830.1:n.2187A>G
ENST00000674662.1:c.3726A>G	ENSP00000501895.1:n.3726A>G
ENST00000674686.1:c.28A>G
ENST00000674757.1:c.3727A>G	ENSP00000502202.1:n.3727A>G
ENST00000675207.1:c.3818A>G	ENSP00000502644.1:p.Lys1273Arg
ENST00000675329.1:c.3698A>G	ENSP00000502287.1:p.Lys1233Arg
ENST00000675424.1:c.28A>G
ENST00000675481.1:c.3725A>G	ENSP00000502723.1:p.Lys1242Arg
ENST00000675638.1:c.3641A>G	ENSP00000501647.1:p.Lys1214Arg
ENST00000675930.1:c.3610A>G	ENSP00000502456.1:n.3610A>G
ENST00000675980.1:c.3740A>G	ENSP00000502520.1:p.Lys1247Arg
ENST00000676366.1:c.3529A>G	ENSP00000501605.1:n.3529A>G
XM_005268004.3:c.3818A>G	XP_005268061.1:p.Lys1273Arg
XM_005268004.4:c.3818A>G	XP_005268061.1:p.Lys1273Arg
XM_005268005.3:c.3790+455A>G	XP_005268062.1:n.3790+455A>G
XM_005268005.4:c.3790+455A>G	XP_005268062.1:n.3790+455A>G
XM_017021595.1:c.3818A>G	XP_016877084.1:p.Lys1273Arg
XR_943507.1:n.3947A>G