Canonical Allele Identifier: CA7373244

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714580G>A , CM000676.2:g.104714580G>A	GRCh38
NC_000014.8:g.105180917G>A , CM000676.1:g.105180917G>A	GRCh37
NC_000014.7:g.104251962G>A	NCBI36
NG_027684.1:g.29975G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3418G>A MANE Select	NP_071934.3:p.Val1140Ile
ENST00000392634.9:c.3418G>A MANE Select	ENSP00000376410.4:p.Val1140Ile
NM_001031714.3:c.3418G>A	NP_001026884.3:p.Val1140Ile
NM_001031714.4:c.3418G>A	NP_001026884.3:p.Val1140Ile
NM_022489.3:c.3418G>A	NP_071934.3:p.Val1140Ile
ENST00000252527.8:c.1822G>A	ENSP00000252527.8:p.Val608Ile
ENST00000330634.11:c.3418G>A	ENSP00000376406.3:p.Val1140Ile
ENST00000392634.8:c.3418G>A	ENSP00000376410.4:p.Val1140Ile
ENST00000617571.4:c.-716G>A	ENSP00000483829.1:n.-716G>A
ENST00000617571.5:c.3414G>A	ENSP00000483829.2:n.3414G>A
ENST00000674520.1:c.3413G>A	ENSP00000502593.1:n.3413G>A
ENST00000674631.1:c.1456G>A	ENSP00000502830.1:p.Val486Ile
ENST00000674662.1:c.3422G>A	ENSP00000501895.1:n.3422G>A
ENST00000674757.1:c.3423G>A	ENSP00000502202.1:n.3423G>A
ENST00000674822.1:c.3302G>A	ENSP00000501552.1:n.3302G>A
ENST00000674846.1:c.3413G>A	ENSP00000502431.1:n.3413G>A
ENST00000674857.1:c.3407G>A	ENSP00000501687.1:n.3407G>A
ENST00000674960.1:c.3276G>A	ENSP00000501841.1:n.3276G>A
ENST00000674991.1:c.2668G>A	ENSP00000502004.1:p.Val890Ile
ENST00000675207.1:c.3514G>A	ENSP00000502644.1:p.Val1172Ile
ENST00000675329.1:c.3394G>A	ENSP00000502287.1:p.Val1132Ile
ENST00000675481.1:c.3418G>A	ENSP00000502723.1:p.Val1140Ile
ENST00000675583.1:c.3347G>A	ENSP00000501740.1:n.3347G>A
ENST00000675603.1:n.658G>A
ENST00000675638.1:c.3337G>A	ENSP00000501647.1:p.Val1113Ile
ENST00000675724.1:c.3356G>A	ENSP00000502576.1:n.3356G>A
ENST00000675771.1:c.2681G>A	ENSP00000502104.1:n.2681G>A
ENST00000675797.1:c.2823G>A	ENSP00000502023.1:n.2823G>A
ENST00000675809.1:c.3473G>A	ENSP00000502587.1:n.3473G>A
ENST00000675930.1:c.3306G>A	ENSP00000502456.1:p.Ala1102=
ENST00000675980.1:c.3436G>A	ENSP00000502520.1:p.Val1146Ile
ENST00000676016.1:c.3317G>A	ENSP00000502412.1:n.3317G>A
ENST00000676366.1:c.3234-9G>A	ENSP00000501605.1:n.3234-9G>A
XM_005268004.3:c.3514G>A	XP_005268061.1:p.Val1172Ile
XM_005268004.4:c.3514G>A	XP_005268061.1:p.Val1172Ile
XM_005268005.3:c.3514G>A	XP_005268062.1:p.Val1172Ile
XM_005268005.4:c.3514G>A	XP_005268062.1:p.Val1172Ile
XM_017021595.1:c.3514G>A	XP_016877084.1:p.Val1172Ile
XR_943507.1:n.3643G>A